ClinVar Miner

Variants from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
5742 7589 94 5792 2768 226 555 8363

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor other
pathogenic 1 393 94 10 13 0 2 17 0 1 2 0 12 49
likely pathogenic 267 0 153 2 3 0 1 1 0 0 1 0 2 16
uncertain significance 116 165 12 1191 357 1 0 3 0 0 0 0 2 37
likely benign 15 13 1013 5 1867 1 0 0 1 0 0 0 1 50
benign 26 15 435 3265 76 0 4 1 0 1 0 1 15 10
established risk allele 1 1 1 0 1 0 0 0 0 0 0 0 1 0

Submitter to submitter summary #

Total submitters: 197
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
GeneDx 0 6849 0 1440 596 1 89 2126
Invitae 0 3782 0 811 506 7 112 1436
CeGaT Center for Human Genetics Tuebingen 0 1997 0 840 283 1 47 1171
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2120 0 678 307 1 57 1043
PreventionGenetics, part of Exact Sciences 0 3711 0 663 331 2 31 1027
Illumina Laboratory Services, Illumina 0 1216 0 492 356 0 20 868
Eurofins Ntd Llc (ga) 0 2155 0 350 377 10 41 778
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1559 0 588 111 1 10 710
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 485 0 636 34 1 2 673
Genetic Services Laboratory, University of Chicago 0 761 0 488 118 2 7 615
Ambry Genetics 0 1505 0 330 229 0 18 576
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 760 0 499 48 0 9 556
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1985 0 301 193 1 22 517
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1161 0 246 183 1 39 469
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1066 0 388 74 0 3 465
Clinical Genetics, Academic Medical Center 0 1513 0 374 64 1 1 440
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1530 0 345 63 1 7 416
Athena Diagnostics Inc 0 1164 0 294 107 0 10 411
Mayo Clinic Laboratories, Mayo Clinic 0 900 0 141 124 0 30 295
OMIM 0 207 0 26 8 184 43 258
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 638 0 178 71 1 8 258
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 235 89 82 75 1 2 249
Fulgent Genetics, Fulgent Genetics 0 496 0 222 13 0 2 237
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 256 0 166 29 1 9 205
Revvity Omics, Revvity 0 884 0 77 88 0 31 196
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 620 0 150 14 1 2 167
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 322 0 120 27 0 3 150
Department of Pathology and Laboratory Medicine, Sinai Health System 0 260 0 55 66 1 16 138
Counsyl 0 96 0 74 6 0 15 95
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 156 0 40 50 1 4 95
Natera, Inc. 0 575 0 61 22 0 3 86
Baylor Genetics 0 195 0 49 5 0 25 79
Genome-Nilou Lab 0 433 0 59 7 0 5 71
Mendelics 0 106 0 33 25 0 8 66
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 314 0 57 7 0 1 65
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 97 0 34 10 1 0 45
Color Diagnostics, LLC DBA Color Health 0 135 0 31 11 0 3 45
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 54 0 12 24 0 1 37
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 6 0 3 6 0 24 33
All of Us Research Program, National Institutes of Health 0 115 0 24 4 0 5 33
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 49 0 8 16 0 5 29
Leiden Open Variation Database 0 16 0 26 3 0 0 29
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 55 0 7 6 0 12 25
Blueprint Genetics 0 54 0 10 6 0 8 24
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 52 0 9 12 0 1 22
NIHR Bioresource Rare Diseases, University of Cambridge 0 18 0 15 3 0 4 22
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 21 0 16 3 0 3 22
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 34 0 9 8 2 2 21
Myriad Genetics, Inc. 0 52 0 16 2 0 3 21
AiLife Diagnostics, AiLife Diagnostics 0 60 0 13 2 1 3 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 32 0 10 2 0 7 19
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 39 0 9 2 0 7 18
PharmGKB 0 0 0 0 0 18 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 29 0 3 15 0 0 18
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 131 0 14 0 0 3 17
CFTR-France 0 13 0 5 0 0 12 17
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 67 0 8 5 1 2 16
CSER _CC_NCGL, University of Washington 0 14 0 4 11 0 1 16
Clinical Genetics and Genomics, Karolinska University Hospital 0 129 0 9 3 0 3 15
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 7 0 3 10 2 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 18 0 7 4 0 3 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 40 0 4 4 0 5 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 32 0 7 5 0 1 13
Genetics and Molecular Pathology, SA Pathology 0 30 0 12 0 0 0 12
MGZ Medical Genetics Center 0 29 0 8 0 0 3 11
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 42 0 4 4 0 3 11
Sema4, Sema4 0 6 0 5 3 0 2 10
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 10 0 0 0 10
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 9 0 9 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 0 27 0 4 4 0 0 8
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 18 0 6 1 0 1 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 5 2 0 0 7
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 1 3 2 1 0 1 7
SIB Swiss Institute of Bioinformatics 0 8 0 5 2 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 27 0 5 2 0 0 7
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 0 5 1 0 1 7
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 5 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 18 0 2 3 0 1 6
Department of Pathology and Molecular Medicine, Queen's University 0 15 0 4 2 0 0 6
Molecular Genetics, Royal Melbourne Hospital 0 12 0 4 1 0 1 6
Giacomini Lab, University of California, San Francisco 0 5 0 2 1 0 3 6
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 0 6 0 4 0 0 2 6
GeneReviews 0 67 1 1 0 1 2 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 9 0 5 0 0 0 5
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 70 0 5 0 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 0 11 0 4 0 0 1 5
Cavalleri Lab, Royal College of Surgeons in Ireland 0 2 0 1 0 0 4 5
Institute of Reproductive Genetics, University of Münster 0 7 0 2 0 0 3 5
Neuberg Centre For Genomic Medicine, NCGM 0 17 0 5 0 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 67 0 4 1 0 0 5
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 6 0 1 3 0 0 4
King Laboratory, University of Washington 0 3 0 1 3 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 6 0 1 1 0 2 4
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 2 0 0 2 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 10 0 2 0 0 2 4
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 4 4
Database of Curated Mutations (DoCM) 0 0 0 4 0 0 0 4
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 1 1 0 2 4
Medical Genetics Summaries 0 0 0 0 0 4 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 5 0 0 3 0 1 4
Gharavi Laboratory, Columbia University 0 14 0 2 0 0 2 4
Institute of Human Genetics, University Hospital Muenster 0 20 0 3 1 0 0 4
3billion 0 22 0 2 1 0 1 4
Genomics England Pilot Project, Genomics England 0 2 0 4 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 15 0 0 2 0 1 3
Claritas Genomics 0 6 0 3 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 12 0 1 0 0 2 3
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 2 0 0 3
Inherited Neuropathy Consortium 0 2 0 0 2 0 1 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 7 0 2 0 0 1 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 7 0 1 1 0 1 3
University of Washington Department of Laboratory Medicine, University of Washington 0 5 0 0 0 1 2 3
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 15 0 1 1 0 1 3
Pars Genome Lab 0 25 0 2 1 0 0 3
DASA 0 26 0 3 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 2 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 4 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 13 0 1 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 8 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 1 1 0 0 2
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 0 1 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 36 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 0 0 0 2 2
Dan Cohn Lab, University Of California Los Angeles 0 1 0 1 0 0 1 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 1 0 1 2
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 0 0 1 0 1 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 2 0 0 0 2
3DMed Clinical Laboratory Inc 0 3 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 1 2
Johns Hopkins Genomics, Johns Hopkins University 0 18 0 1 0 0 1 2
Klaassen Lab, Charite University Medicine Berlin 0 0 0 1 0 0 1 2
Reproductive Health Research and Development, BGI Genomics 0 7 0 0 2 0 0 2
CZECANCA consortium 0 26 0 0 0 0 2 2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 2 0 0 2
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 0 3 0 1 0 0 1 2
Paris Brain Institute, Inserm - ICM 0 2 0 0 2 0 0 2
Phenosystems SA 0 0 0 0 1 0 1 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 0 1 0 0 1 2
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 0 0 2 0 0 0 2
Clinical Biochemistry Laboratory, Health Services Laboratory 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 1 0 0 0 1
FirmaLab, FirmaLab 0 0 0 0 0 0 1 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 2 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 0 1 0 0 0 1
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 0 0 1 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 0 1 0 0 1
GenMed Metabolism Lab 0 1 0 1 0 0 0 1
Molecular Genetics and Enzymology, National Research Centre 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 0 1 0 0 1
Pathway Genomics 0 0 0 1 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 1 0 0 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 0 0 0 1 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 5 0 0 1 0 0 1
Phosphorus, Inc. 0 6 0 1 0 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1 1
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris 0 1 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 2 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 0 0 0 0 1 1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 0 0 0 1 0 0 0 1
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 0 0 0 0 0 1 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 2 0 1 0 0 0 1
Department of Haematogenetics, ICMR National Institute of Immunohaematology 0 0 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 5 0 1 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 0 0 0 0 0 1 1
Robert's Program, Boston Children's Hospital 0 2 0 1 0 0 0 1
New York Genome Center 0 17 0 0 1 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 4 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 4 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 5 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 1 0 0 0 1
Suma Genomics 0 4 0 0 0 0 1 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 8 0 0 1 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 1 0 0 1
Clinical Genomics Labs, University Health Network 0 0 0 0 0 0 1 1
Eurofins-Biomnis 0 1 0 0 0 0 1 1
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 0 1 0 0 0 0 1 1
Arcensus 0 1 0 1 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 0 6 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8363
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_019076.5(UGT1A8):c.855+63319T>G rs7586110 0.34319
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln) rs2286963 0.27207
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.25187
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_177438.3(DICER1):c.1907+105C>T rs2275182 0.22841
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001355436.2(SPTB):c.6023-8C>T rs56181906 0.17449
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_001355436.2(SPTB):c.6269+13C>T rs11622977 0.17268
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_001355436.2(SPTB):c.5799-7C>T rs7142689 0.17051
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.12317
NM_003001.5(SDHC):c.77+32A>T rs77828459 0.12254
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350 0.06645
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_002529.4(NTRK1):c.1806-4del rs1799770 0.06316
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_001355436.2(SPTB):c.4003-12T>C rs78707026 0.06057
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956 0.06031
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552 0.06024
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06008
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145 0.05960
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310 0.05857
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311 0.05828
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252 0.05745
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_001142864.4(PIEZO1):c.2991+12A>G rs112680298 0.05710
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_000112.4(SLC26A2):c.*1892dup rs148778566 0.04587
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503 0.04465
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys) rs419752 0.03813
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001753.5(CAV1):c.156C>T (p.Val52=) rs10029 0.03703
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) rs112081600 0.03693
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu) rs13060192 0.03637
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778 0.03447
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_005529.7(HSPG2):c.3744-65C>T rs34855688 0.03328
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184 0.03219
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03151
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_001243156.2(TAF1C):c.*1082A>G rs2288024 0.03108
NM_032119.4(ADGRV1):c.13232-7A>G rs2438358 0.03097
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_002661.5(PLCG2):c.2054+7G>A rs138158454 0.02918
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599 0.02823
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 0.02792
NM_000074.2(CD40LG):c.-191A>C rs36206512 0.02791
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02763
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_002661.5(PLCG2):c.770A>T (p.His257Leu) rs45443101 0.02615
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759 0.02608
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=) rs142099589 0.02381
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001148.6(ANK2):c.3796+18G>A rs66792339 0.02360
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NC_000012.12:g.6125718G>A rs151088025 0.02305
NM_001999.4(FBN2):c.2555-184T>G rs62375019 0.02297
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_170707.4(LMNA):c.1158-43A>G rs16837198 0.02198
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_001430.5(EPAS1):c.1035-15T>C rs116510029 0.02125
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621 0.02081
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01961
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_001365951.3(KIF1B):c.2115+6753A>G rs41274462 0.01960
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600 0.01938
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=) rs114328138 0.01906
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119 0.01896
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln) rs188337046 0.01884
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_000517.6(HBA2):c.300+55T>G rs2362746 0.01848
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01848
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449 0.01843
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met) rs61734638 0.01825
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_000138.5(FBN1):c.443-35A>G rs116842662 0.01770
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718 0.01765
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_177438.3(DICER1):c.2997T>G (p.Leu999=) rs12018992 0.01764
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile) rs72648903 0.01724
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644 0.01656
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=) rs73072968 0.01641
NM_003200.5(TCF3):c.592A>G (p.Thr198Ala) rs11879402 0.01640
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) rs115393178 0.01622
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_000089.4(COL1A2):c.70+719_70+720del rs201691876 0.01601
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) rs41289942 0.01592
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01586
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_021939.4(FKBP10):c.1400-4C>G rs114199361 0.01571
NM_001377.3(DYNC2H1):c.10327-53A>G rs116174151 0.01569
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_003200.5(TCF3):c.1062T>C (p.Ser354=) rs11882821 0.01552
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498 0.01536
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000642.3(AGL):c.82+1565T>G rs145049634 0.01521
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_000552.5(VWF):c.6902-5T>A rs112046757 0.01517
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_001267550.2(TTN):c.40141+7G>A rs77960621 0.01470
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01460
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_000558.5(HBA1):c.*46C>A rs141514155 0.01440
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782 0.01437
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val) rs2230723 0.01376
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_001142864.4(PIEZO1):c.1297-14T>C rs11860864 0.01373
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_006182.4(DDR2):c.1323G>A (p.Met441Ile) rs34722354 0.01358
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_133379.5(TTN):c.13608C>T (p.Ser4536=) rs72648905 0.01336
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020 0.01332
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser) rs34230288 0.01330
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_001114753.3(ENG):c.524-30G>A rs41409546 0.01314
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_032228.6(FAR1):c.12C>T (p.Ile4=) rs117395380 0.01310
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_006883.2(SHOX):c.653G>A (p.Arg218His) rs193072890 0.01306
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_001291303.3(FAT4):c.14135C>G (p.Ser4712Cys) rs147662558 0.01304
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_001142864.4(PIEZO1):c.2992-18G>A rs190814667 0.01297
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_005032.7(PLS3):c.321T>A (p.Gly107=) rs140121121 0.01269
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_000141.5(FGFR2):c.110-54C>T rs3135732 0.01267
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_005228.5(EGFR):c.1881-721G>A rs17336988 0.01263
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_017553.3(INO80):c.432C>T (p.Asp144=) rs75953315 0.01255
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000548.5(TSC2):c.848+276C>G rs60154230 0.01237
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile) rs11122266 0.01237
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=) rs113442867 0.01233
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356 0.01231
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_006096.4(NDRG1):c.507G>A (p.Ala169=) rs2233331 0.01225
NM_014251.3(SLC25A13):c.615+36T>C rs56773234 0.01220
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_000346.4(SOX9):c.-169G>A rs115615437 0.01212
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_005529.7(HSPG2):c.2558+17G>T rs74060201 0.01206
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043 0.01201
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414 0.01192
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val) rs55853696 0.01185
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01179
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser) rs17883718 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_000071.3(CBS):c.829-91G>A rs150181241 0.01153
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu) rs34432513 0.01144
NM_001042492.3(NF1):c.3974+38T>G rs9894862 0.01144
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile) rs28756982 0.01142
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01140
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_001142864.4(PIEZO1):c.4475G>A (p.Gly1492Asp) rs8051003 0.01135
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_006182.4(DDR2):c.83-4C>T rs76156815 0.01091
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_000352.6(ABCC8):c.4119+18A>G rs75967811 0.01067
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) rs17782839 0.01052
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=) rs75469760 0.01048
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_000451.4(SHOX):c.870G>A (p.Leu290=) rs746391025 0.01047
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=) rs114552047 0.01041
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614 0.01033
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001458.5(FLNC):c.2266-14G>C rs75612085 0.01030
NM_000193.4(SHH):c.301-131C>T rs9333618 0.01029
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) rs2290901 0.01007
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_001244008.2(KIF1A):c.363+16C>T rs7594569 0.01003
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024 0.01001
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_014208.3(DSPP):c.3561T>C (p.Ser1187=) rs369987019 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_001567.4(INPPL1):c.909G>C (p.Lys303Asn) rs17847215 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=) rs118143944 0.00983
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_002661.5(PLCG2):c.82A>T (p.Met28Leu) rs61749044 0.00973
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_006767.4(LZTR1):c.2219+13C>T rs144005025 0.00972
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala) rs57585902 0.00971
NM_006446.5(SLCO1B1):c.733A>G (p.Ile245Val) rs11045852 0.00969
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_000558.5(HBA1):c.-42C>T rs370305736 0.00968
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_147127.5(EVC2):c.3361-89C>A rs116392680 0.00965
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_182925.5(FLT4):c.3962G>A (p.Arg1321Gln) rs79620092 0.00954
NM_001142864.4(PIEZO1):c.7152C>T (p.Gly2384=) rs78114078 0.00953
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln) rs61734951 0.00943
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_006182.4(DDR2):c.699C>T (p.Thr233=) rs56351141 0.00925
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser) rs77133587 0.00924
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_000142.5(FGFR3):c.109+26G>A rs17884282 0.00910
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_004239.4(TRIP11):c.5160+59A>G rs117502191 0.00901
NM_181078.3(IL21R):c.-17+563G>A rs117535117 0.00901
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_001384140.1(PCDH15):c.92-493A>T rs77290854 0.00896
NM_001142864.4(PIEZO1):c.748G>A (p.Val250Ile) rs115486714 0.00895
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
UGT1A1*6 rs4148323 0.00891
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00887
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=) rs11555434 0.00876
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_012213.3(MLYCD):c.1464A>G (p.Gln488=) rs1127368 0.00870
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_022356.4(P3H1):c.2055+70G>T rs115690038 0.00864
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=) rs28362262 0.00856
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_017668.3(NDE1):c.*384C>T rs193005461 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) rs139099911 0.00845
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00844
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) rs200353947 0.00844
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser) rs77289466 0.00827
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000435.3(NOTCH3):c.2566+24G>T rs151276393 0.00824
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_006446.5(SLCO1B1):c.1495A>G (p.Ile499Val) rs74064213 0.00823
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_201548.5(CERKL):c.677+566G>T rs10185262 0.00821
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=) rs61736907 0.00815
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001355436.2(SPTB):c.609G>A (p.Lys203=) rs74666863 0.00811
NM_001386125.1(OBSCN):c.11984C>T (p.Pro3995Leu) rs62621834 0.00810
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr) rs3737564 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile) rs61743746 0.00802
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) rs139132509 0.00802
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) rs12299012 0.00802
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=) rs114584865 0.00796
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_001457.4(FLNB):c.3771G>A (p.Pro1257=) rs146851485 0.00794
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_006182.4(DDR2):c.1505-19G>A rs143729297 0.00789
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_001142864.4(PIEZO1):c.6219C>T (p.Tyr2073=) rs61745850 0.00779
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648 0.00779
NM_000435.3(NOTCH3):c.197+24C>G rs188132716 0.00778
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) rs76834910 0.00776
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser) rs78302129 0.00774
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_014208.3(DSPP):c.2012G>A (p.Ser671Asn) rs200839637 0.00769
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys) rs61749025 0.00769
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) rs11825834 0.00763
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=) rs117289001 0.00762
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_002296.4(LBR):c.90C>T (p.His30=) rs2230416 0.00758
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr) rs61459051 0.00757
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_006031.6(PCNT):c.8065-19G>A rs78561636 0.00750
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) rs75368761 0.00748
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_000316.3(PTH1R):c.1395+15G>A rs151077141 0.00747
NM_000435.3(NOTCH3):c.1952-23G>A rs147014533 0.00747
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_000552.5(VWF):c.2510C>A (p.Ala837Asp) rs75645183 0.00739
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_031443.4(CCM2):c.984G>A (p.Gly328=) rs112504276 0.00732
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp) rs28718831 0.00730
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln) rs28515675 0.00726
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_003126.4(SPTA1):c.3037-14T>C rs142102801 0.00723
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=) rs184931664 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_006506.5(RASA2):c.2226-5C>T rs112582979 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_006182.4(DDR2):c.2481G>T (p.Leu827=) rs35077871 0.00708
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001244008.2(KIF1A):c.4318+17C>T rs138964333 0.00704
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr) rs2501264 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_001024630.4(RUNX2):c.1087+17T>C rs148013252 0.00680
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260 0.00678
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_005228.5(EGFR):c.2963A>C (p.His988Pro) rs17290699 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_001498.4(GCLC):c.1524G>A (p.Thr508=) rs17881359 0.00669
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_006415.4(SPTLC1):c.*124A>G rs189582528 0.00666
NM_014208.3(DSPP):c.3204T>C (p.Asp1068=) rs370264407 0.00665
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_005428.4(VAV1):c.1980T>C (p.His660=) rs112350637 0.00662
NM_005529.7(HSPG2):c.3967C>G (p.Leu1323Val) rs10917058 0.00662
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_001355436.2(SPTB):c.1707G>A (p.Lys569=) rs139116435 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_001142864.4(PIEZO1):c.6222C>T (p.Phe2074=) rs34388120 0.00654
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000016.6(ACADM):c.*77C>T rs143911981 0.00652
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00651
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys) rs62000409 0.00649
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00649
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280 0.00646
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00642
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_001458.5(FLNC):c.352+10G>A rs79489893 0.00639
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_139125.4(MASP1):c.1090+2877G>A rs113938200 0.00638
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_133379.5(TTN):c.16508G>C (p.Ser5503Thr) rs16866489 0.00635
NM_000053.4(ATP7B):c.-54G>T rs115564351 0.00634
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_020708.5(SLC12A5):c.482-5T>C rs147042920 0.00631
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_001081.4(CUBN):c.5080+17T>C rs79034718 0.00630
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564 0.00627
NM_000363.5(TNNI3):c.-47C>T rs202159627 0.00625
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_012452.3(TNFRSF13B):c.61+10C>T rs148297590 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108 0.00620
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514 0.00612
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
NM_005422.4(TECTA):c.5384-19G>A rs7111480 0.00609
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000162.5(GCK):c.46-5594A>G rs75119141 0.00607
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu) rs79042365 0.00606
NM_005428.4(VAV1):c.835G>A (p.Val279Ile) rs117819421 0.00605
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu) rs61729354 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905 0.00599
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) rs113231696 0.00597
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) rs139883132 0.00597
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly) rs72647896 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_000112.4(SLC26A2):c.*330G>T rs191884433 0.00587
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_003073.5(SMARCB1):c.500+65G>A rs34545858 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_001013703.4(EIF2AK4):c.1660+12A>T rs55851223 0.00580
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_014920.5(CILK1):c.1448C>G (p.Ser483Cys) rs115840580 0.00580
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_177438.3(DICER1):c.5095+13C>T rs116247322 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883 0.00567
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961 0.00566
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_001142864.4(PIEZO1):c.2139C>T (p.His713=) rs36067616 0.00564
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416 0.00563
NM_001142864.4(PIEZO1):c.4495+4C>T rs140520334 0.00562
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947 0.00561
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988 0.00560
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_001355436.2(SPTB):c.5554-3C>T rs190765118 0.00555
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_006785.4(MALT1):c.1223-20_1223-17del rs558928879 0.00553
NM_001130823.3(DNMT1):c.117+19T>C rs77954383 0.00552
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147 0.00552
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=) rs138064042 0.00549
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694 0.00548
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_004444.5(EPHB4):c.2670G>T (p.Glu890Asp) rs35638378 0.00547
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=) rs1992376 0.00546
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_182925.5(FLT4):c.3460G>A (p.Gly1154Arg) rs75614493 0.00541
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554 0.00540
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001377229.1(DISP1):c.1950A>G (p.Thr650=) rs73130656 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_025059.4(CCDC170):c.1033G>A (p.Glu345Lys) rs55868409 0.00538
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=) rs34352064 0.00535
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) rs6828134 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_000517.6(HBA2):c.95+27C>T rs558457816 0.00531
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe) rs61736879 0.00529
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_001142864.4(PIEZO1):c.1723G>A (p.Val575Met) rs187832410 0.00523
NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr) rs144673025 0.00523
NM_000942.5(PPIB):c.344-61C>T rs2241995 0.00522
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_001457.4(FLNB):c.5646G>A (p.Pro1882=) rs114882667 0.00522
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231 0.00520
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_006767.4(LZTR1):c.201-8C>T rs183476594 0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=) rs28362285 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_001142864.4(PIEZO1):c.4770G>A (p.Val1590=) rs183221795 0.00516
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=) rs143195637 0.00513
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_002661.5(PLCG2):c.2542C>T (p.Leu848Phe) rs114618894 0.00510
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_020297.4(ABCC9):c.2644-19G>A rs73254534 0.00507
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_000038.6(APC):c.532-32T>C rs112108777 0.00505
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_030943.4(AMN):c.165G>A (p.Met55Ile) rs61731158 0.00505