ClinVar Miner

Variants from Genetic Services Laboratory, University of Chicago with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Genetic Services Laboratory, University of Chicago: Collection method of the submission from Genetic Services Laboratory, University of Chicago:
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
7907 6267 55 6993 3593 32 434 10350

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
Genetic Services Laboratory, University of Chicago pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele pathogenic, low penetrance protective risk factor uncertain risk allele other
pathogenic 1 322 103 2 4 1 0 2 0 3 0 3 0 0
likely pathogenic 232 2 145 5 3 0 0 0 1 0 0 0 0 0
uncertain significance 67 105 15 2252 782 0 1 0 0 0 0 2 1 0
likely benign 7 15 861 17 4556 0 0 1 0 0 2 5 0 1
benign 8 5 235 1883 20 0 0 1 0 0 0 2 0 1
risk factor 1 1 1 0 0 0 0 0 0 0 0 0 0 0
other 5 2 3 3 3 1 2 2 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 225
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 5176 0 3664 1145 4 78 4891
PreventionGenetics, part of Exact Sciences 0 3481 0 2144 946 5 16 3111
Invitae 0 3446 0 1716 1052 5 104 2877
Eurofins Ntd Llc (ga) 0 1831 0 1168 520 4 13 1705
CeGaT Center for Human Genetics Tuebingen 0 2216 0 907 671 5 31 1614
Athena Diagnostics Inc 0 884 0 955 161 0 14 1130
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1185 0 675 335 2 23 1035
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1084 0 807 206 1 4 1018
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 757 0 660 78 1 1 740
Clinical Genetics, Academic Medical Center 0 635 0 635 101 0 2 738
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 648 0 540 137 0 4 681
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 761 0 488 118 2 7 615
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 623 0 490 117 0 3 610
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 579 0 459 101 0 0 560
Quest Diagnostics Nichols Institute San Juan Capistrano 0 676 0 295 184 1 7 487
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 461 0 390 81 1 2 474
Ambry Genetics 0 546 0 227 148 0 8 383
Illumina Laboratory Services, Illumina 0 464 0 180 151 2 15 346
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 321 0 260 56 0 4 320
Mayo Clinic Laboratories, Mayo Clinic 0 373 0 217 79 3 8 307
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 413 0 179 94 2 2 277
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 113 47 73 82 0 1 203
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 279 0 153 24 0 1 178
Department of Pathology and Laboratory Medicine, Sinai Health System 0 189 0 62 87 1 2 152
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 187 0 46 84 1 3 134
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 333 0 69 38 1 0 108
Revvity Omics, Revvity 0 353 0 43 24 0 27 94
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 105 0 79 10 0 0 89
Mendelics 0 69 0 26 57 0 3 86
OMIM 0 226 0 41 8 19 11 79
Genome-Nilou Lab 0 219 0 37 30 0 11 78
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 80 0 39 20 1 2 62
Fulgent Genetics, Fulgent Genetics 0 232 0 50 5 0 0 55
Natera, Inc. 0 90 0 29 17 0 5 51
Leiden Open Variation Database 0 28 0 21 16 0 6 43
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 35 35
Counsyl 0 46 0 28 0 0 6 34
Baylor Genetics 0 165 0 23 0 0 6 29
All of Us Research Program, National Institutes of Health 0 50 0 5 13 0 9 27
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 4 0 2 4 0 17 23
Color Diagnostics, LLC DBA Color Health 0 67 0 11 10 0 1 22
CSER _CC_NCGL, University of Washington 0 22 0 5 15 0 1 21
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 15 0 6 13 0 1 20
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 24 0 12 0 0 8 20
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 8 0 19 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 0 69 0 13 1 0 4 18
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 46 0 13 0 0 5 18
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 5 0 7 9 1 1 18
RettBASE 0 75 0 13 0 0 4 17
3billion 0 69 0 14 0 0 2 16
Claritas Genomics 0 7 0 15 0 0 0 15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 38 0 7 4 0 4 15
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 11 0 11 3 0 0 14
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 13 0 10 3 0 1 14
MGZ Medical Genetics Center 0 47 0 10 0 0 3 13
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 17 0 13 0 0 0 13
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 18 0 9 2 1 1 13
Blueprint Genetics 0 19 0 1 9 0 2 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 28 0 3 3 0 6 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 39 0 7 2 0 2 11
SIB Swiss Institute of Bioinformatics 0 11 0 11 0 0 0 11
AiLife Diagnostics, AiLife Diagnostics 0 28 0 5 3 0 3 11
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 12 0 2 5 0 4 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 14 0 8 1 0 1 10
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 24 0 8 1 1 0 10
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 7 0 8 2 0 0 10
Centre for Population Genomics, CPG 0 27 0 9 1 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 60 0 8 0 0 1 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 29 0 9 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 20 0 2 2 0 5 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 1 0 0 7 8
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 18 0 5 3 0 0 8
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 8 0 6 1 0 0 7
Genomics England Pilot Project, Genomics England 0 6 0 7 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 33 0 4 1 0 1 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 41 0 2 3 0 1 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 2 4 0 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 4 2 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 16 0 6 0 0 0 6
New York Genome Center 0 34 0 3 2 0 1 6
Neuberg Centre For Genomic Medicine, NCGM 0 33 0 6 0 0 0 6
Clinical Genetics and Genomics, Karolinska University Hospital 0 20 0 3 0 0 2 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 25 0 3 0 0 2 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 40 0 4 0 0 1 5
Yale Center for Mendelian Genomics, Yale University 0 3 0 2 0 0 3 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 9 0 4 0 0 1 5
DASA 0 28 0 3 0 1 1 5
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 0 3 1 0 0 4
King Laboratory, University of Washington 0 1 0 0 3 0 1 4
Centogene AG - the Rare Disease Company 0 25 0 4 0 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 4 4
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 4 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 1 0 4 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 7 0 2 1 0 1 4
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 4 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 28 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 15 0 3 0 0 1 4
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 0 1 0 3 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 20 0 4 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 24 0 3 1 0 0 4
Department of Pathology and Molecular Medicine, Queen's University 0 6 0 3 1 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 11 0 2 2 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 10 0 0 3 1 0 4
Gharavi Laboratory, Columbia University 0 3 0 0 4 0 0 4
Myriad Genetics, Inc. 0 41 0 3 0 0 1 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 2 0 0 2 4
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 3 3
GeneReviews 0 99 1 1 0 0 1 3
PharmGKB 0 0 0 0 0 3 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 6 0 1 2 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 3 0 0 0 3
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 2 0 1 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 6 0 2 1 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 0 3 0 1 1 0 1 3
University of Washington Department of Laboratory Medicine, University of Washington 0 6 0 0 2 1 0 3
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 3 0 1 0 0 2 3
Institute of Human Genetics, University Hospital Muenster 0 9 0 1 1 0 1 3
Lifecell International Pvt. Ltd 0 7 0 3 0 0 0 3
Paris Brain Institute, Inserm - ICM 0 4 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 8 0 3 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 0 0 0 2 0 0 2
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 1 0 1 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 0 2 0 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 4 0 0 2 0 0 2
Shaikh Laboratory, University of Colorado 0 0 0 2 0 0 0 2
Chan Lab, Boston Children's Hospital 0 0 0 0 0 0 2 2
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 1 2
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 9 0 2 0 0 0 2
Neurogenetics Research Program, University of Adelaide 0 0 0 0 2 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 2 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 6 0 1 1 0 0 2
3DMed Clinical Laboratory Inc 0 2 0 0 2 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 9 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 1 1 0 0 2
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 8 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 7 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 12 0 1 0 0 1 2
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 1 0 0 1 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 0 2 0 0 0 2
Suma Genomics 0 9 0 0 0 0 2 2
Phenosystems SA 0 0 0 0 0 0 2 2
Clinical Genomics Labs, University Health Network 0 0 0 0 0 0 2 2
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine 0 0 0 1 0 0 1 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 4 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 1 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 0 1 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 4 0 0 0 0 1 1
Department of Genetics, Robert DEBRE University Hospital 0 0 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
TilsonLab, Columbia University 0 0 0 0 0 0 1 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 0 1
GeneKor MSA 0 5 0 1 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 0 1 0 1 0 0 0 1
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 2 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 5 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 5 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 10 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 1 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 3 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 2 0 1 0 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 2 0 0 0 0 1 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 1 0 0 0 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 4 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 14 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 17 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 8 0 0 0 0 1 1
Lab. Molecular Oncology, VUB, Free University of Brussels 0 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 20 0 0 1 0 0 1
Institute of Reproductive Genetics, University of Münster 0 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 6 0 0 1 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 1 0 1 0 0 0 1
deCODE genetics, Amgen 0 2 0 1 0 0 0 1
Bioinformatics Institute, Agency for Science, Technology and Research 0 0 0 0 0 1 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 0 1 0 0 1
CZECANCA consortium 0 6 0 1 0 0 0 1
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University 0 0 0 0 0 1 0 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 0 0 0 1 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 4 0 1 0 0 0 1
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University 0 0 0 0 0 0 1 1
Autoinflammatory diseases unit, CHU de Montpellier 0 13 0 1 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 0 0 1 0 0 1
Clinical Genomics Program, Stanford Medicine 0 6 0 0 0 0 1 1
Population Bio, Inc. 0 0 0 0 0 1 0 1
Ding PR Lab, Sun Yat-sen University Cancer Center 0 0 0 1 0 0 0 1
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 0 0 1 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Department of Pathophysiology and Transplantation, University of Milan 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 4 0 0 0 0 1 1
Centre for Human Genetics, University of Kinshasa 0 0 0 1 0 0 0 1
Molecular Genetics, Madras Diabetes Research Foundation 0 1 0 1 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 6 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
H3Africa Consortium 0 3 0 1 0 0 0 1
Imperial College London Diabetes Centre, Mubadala Healthcare 0 0 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 1 0 0 0 1
Arcensus 0 2 0 1 0 0 0 1
Geisinger Clinic, Geisinger Health System 0 3 0 1 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 0 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 4 0 1 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 0 0 1 0 0 0 1
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 10350
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99890
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_014832.5(TBC1D4):c.723G>C (p.Gly241=) rs7983969 0.99710
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_020921.4(NIN):c.933G>C (p.Leu311=) rs8020503 0.99252
NM_020921.4(NIN):c.5628+5T>C rs3015485 0.99236
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) rs6491088 0.99194
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98359
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_001130438.3(SPTAN1):c.2560+43G>A rs4836615 0.96851
NM_001130438.3(SPTAN1):c.4905+41C>G rs7024498 0.96844
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_002025.4(AFF2):c.3404+7A>G rs5980615 0.95464
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.95319
NM_016553.5(NUP62):c.1323T>C (p.Asp441=) rs892028 0.95154
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883 0.93729
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_001130438.3(SPTAN1):c.6708-47G>A rs7866175 0.93246
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_022095.4(ZNF335):c.201+10C>G rs6017715 0.92719
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) rs4975629 0.91839
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_022095.4(ZNF335):c.881G>C (p.Ser294Thr) rs6032606 0.89832
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696 0.89105
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87959
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_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997 0.87276
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=) rs2074641 0.86492
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=) rs7812015 0.86488
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526 0.86134
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) rs36527 0.86130
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84751
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.84205
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064 0.83235
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_016553.5(NUP62):c.648C>T (p.Ser216=) rs999583 0.81792
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=) rs1376041 0.79529
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_018451.5(CENPJ):c.3478-49C>T rs1530876 0.78901
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.1922-41G>A rs1332663 0.77179
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_025114.4(CEP290):c.5227-43G>A rs2468245 0.76925
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75204
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_152783.5(D2HGDH):c.292+28T>G rs62191977 0.74780
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile) rs1062087 0.74406
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_032119.4(ADGRV1):c.9907-35A>C rs7723259 0.72915
NM_001130438.3(SPTAN1):c.2560+47C>T rs4837284 0.72327
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_001130438.3(SPTAN1):c.6280-27C>T rs3737308 0.71407
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457 0.71354
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_001163809.2(WDR81):c.5451A>G (p.Thr1817=) rs11549259 0.69948
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_020227.4(PRDM9):c.2042C>G (p.Thr681Ser) rs6875787 0.69581
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_006013.5(RPL10):c.605= (p.Ser202=) rs4909 0.69154
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) rs6491066 0.68336
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_000057.4(BLM):c.3359-121_3359-120insA rs11377009 0.67736
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.67221
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_032531.4(KIRREL3):c.1995C>T (p.Gly665=) rs948052 0.66811
NM_001184.4(ATR):c.5898+25T>G rs7620648 0.66679
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972 0.65760
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.62345
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_152783.5(D2HGDH):c.1307-24A>G rs6756901 0.61160
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_001365088.1(SLC12A6):c.1492+45C>T rs10851964 0.60740
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_005198.5(CHKB):c.333+10G>T rs86337 0.59693
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_032737.4(LMNB2):c.1416T>C (p.Gly472=) rs11084940 0.59479
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_015080.4(NRXN2):c.531C>T (p.Gly177=) rs2518907 0.58725
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_006517.5(SLC16A2):c.1399+43T>G rs5937843 0.57946
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57826
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434 0.57798
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_006059.4(LAMC3):c.219T>G (p.His73Gln) rs3739512 0.56936
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_020921.4(NIN):c.5637G>A (p.Gln1879=) rs11376 0.56301
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_003194.5(TBP):c.771T>C (p.Asn257=) rs1042327 0.55570
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser) rs4536103 0.55018
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54408
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422 0.54012
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) rs831043 0.53755
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_004993.6(ATXN3):c.492C>T (p.Val164=) rs16999141 0.53657
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_032119.4(ADGRV1):c.10161+26G>T rs4916815 0.53367
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53313
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53241
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_020921.4(NIN):c.1128T>C (p.Val376=) rs17793018 0.52775
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181 0.51676
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.51303
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.50676
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=) rs831042 0.50520
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_015080.4(NRXN2):c.2745C>T (p.Ile915=) rs526338 0.49435
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_006059.4(LAMC3):c.1932C>T (p.Ser644=) rs12349966 0.48282
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257 0.47837
NM_006059.4(LAMC3):c.1631A>G (p.Glu544Gly) rs10901333 0.47711
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=) rs381309 0.47682
NM_001142633.3(PIK3R5):c.837C>T (p.His279=) rs394811 0.47651
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_014832.5(TBC1D4):c.2901C>T (p.Leu967=) rs2297208 0.47333
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_001374828.1(ARID1B):c.2248-35G>A rs3734440 0.46405
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_001365088.1(SLC12A6):c.271+41G>C rs347836 0.46169
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_014832.5(TBC1D4):c.84C>G (p.Pro28=) rs7327548 0.44024
NM_001048166.1(STIL):c.2615+27A>G rs2742104 0.43900
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_003355.3(UCP2):c.164C>T (p.Ala55Val) rs660339 0.43008
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_004933.3(CDH15):c.1971A>G (p.Gln657=) rs3815615 0.42410
NM_024809.5(TCTN2):c.765-43A>T rs7298831 0.42250
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.41290
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_006059.4(LAMC3):c.963C>T (p.Ala321=) rs2275131 0.40359
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136 0.40227
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_173630.4(RTTN):c.734A>G (p.Lys245Arg) rs17082206 0.40022
NM_003072.5(SMARCA4):c.3168+31C>G rs2075021 0.39914
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) rs60992377 0.39132
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) rs2229267 0.38704
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=) rs2227283 0.38493
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=) rs2295580 0.38170
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=) rs10410239 0.38118
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_006059.4(LAMC3):c.4378-4A>G rs4740413 0.38051
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_002666.5(PLIN1):c.1113T>C (p.Pro371=) rs2304795 0.37380
NM_201525.4(ADGRG1):c.1168-20C>A rs2305309 0.37206
NM_024884.3(L2HGDH):c.1196+34C>T rs12432673 0.37158
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_024809.5(TCTN2):c.1235-28A>G rs12831081 0.36516
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
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_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_020921.4(NIN):c.2616C>A (p.Ala872=) rs2073349 0.35221
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_016553.5(NUP62):c.848G>C (p.Ser283Thr) rs1062798 0.34519
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34271
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_006059.4(LAMC3):c.3114C>G (p.Leu1038=) rs10901345 0.33677
NM_006059.4(LAMC3):c.3108G>A (p.Gly1036=) rs10901344 0.33663
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.33289
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=) rs3735442 0.33029
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_014832.5(TBC1D4):c.2384-3C>T rs2297203 0.31705
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_032119.4(ADGRV1):c.5665-23T>C rs4916683 0.31255
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
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_005881.4(BCKDK):c.615G>A (p.Thr205=) rs14235 0.30943
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_018136.5(ASPM):c.8988-42G>A rs41304071 0.30406
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_004525.3(LRP2):c.639C>T (p.Asp213=) rs2229266 0.30270
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_021956.5(GRIK2):c.2312-9C>T rs2227281 0.29507
NM_004933.3(CDH15):c.264T>C (p.Asp88=) rs59865771 0.29473
NM_006059.4(LAMC3):c.521C>A (p.Pro174His) rs2275137 0.29468
NM_001321142.2(CIDEC):c.96G>T (p.Leu32=) rs456168 0.29400
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=) rs11556200 0.29252
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_020921.4(NIN):c.3090A>T (p.Ser1030=) rs2073348 0.28854
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_006059.4(LAMC3):c.4298C>T (p.Thr1433Met) rs7024108 0.28739
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=) rs11650737 0.28596
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=) rs16957702 0.28549
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser) rs869457 0.28273
NM_032531.4(KIRREL3):c.346A>C (p.Arg116=) rs12269776 0.28200
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364 0.27302
NM_001163809.2(WDR81):c.2331A>G (p.Leu777=) rs7221974 0.27161
NM_152783.5(D2HGDH):c.490+40T>C rs78147778 0.27008
NM_006031.6(PCNT):c.9273+22T>C rs2051190 0.26843
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_001940.4(ATN1):c.2430C>A (p.Arg810=) rs7969685 0.26588
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.26133
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639 0.25945
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25907
NM_006031.6(PCNT):c.1207+34A>T rs35210219 0.25479
NM_001807.6(CEL):c.1710C>T (p.Pro570=) rs488087 0.25447
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_002666.5(PLIN1):c.1119C>T (p.Val373=) rs2304796 0.25348
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) rs2228171 0.25207
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_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=) rs9915880 0.24687
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=) rs13561 0.24486
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_021956.5(GRIK2):c.2085+10G>A rs2243355 0.24093
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_015087.5(SPART):c.1629A>G (p.Ala543=) rs2274293 0.23882
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23587
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_173560.4(RFX6):c.1914T>C (p.Gly638=) rs611349 0.23550
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.23527
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_173560.4(RFX6):c.1542T>C (p.Asn514=) rs7770158 0.23461
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_016529.6(ATP8A2):c.144A>C (p.Gly48=) rs7317185 0.23234
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_173560.4(RFX6):c.1383T>C (p.Thr461=) rs7764347 0.23095
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_003194.5(TBP):c.228G>A (p.Gln76=) rs112083427 0.22669
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.22639
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=) rs10861607 0.22605
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22496
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_014832.5(TBC1D4):c.498+9G>A rs9573565 0.22396
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529 0.22211
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_001130438.3(SPTAN1):c.5479-41A>C rs7864187 0.22153
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_018294.6(CWF19L1):c.479G>A (p.Cys160Tyr) rs2270962 0.21966
NM_000352.6(ABCC8):c.2292-34T>C rs1800852 0.21889
NM_213622.4(STAMBP):c.1218+12T>C rs1025424 0.21855
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_022041.4(GAN):c.1293C>T (p.Tyr431=) rs2608555 0.21491
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_022095.4(ZNF335):c.1103-7G>A rs3746512 0.20987
NM_006059.4(LAMC3):c.4231-10C>T rs4740411 0.20977
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_006059.4(LAMC3):c.4376G>A (p.Arg1459Gln) rs4740412 0.20674
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_005257.6(GATA6):c.1620+7A>G rs3764962 0.20625
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_006059.4(LAMC3):c.1218G>A (p.Thr406=) rs2293518 0.20549
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045 0.20167
NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala) rs2236316 0.20068
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_017757.3(ZNF407):c.1248T>C (p.Pro416=) rs3794941 0.19620
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_020921.4(NIN):c.1974T>C (p.His658=) rs4901055 0.19347
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_006086.4(TUBB3):c.58-49C>T rs28593634 0.19243
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=) rs2302694 0.19156
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_006086.4(TUBB3):c.58-22C>T rs2302897 0.19080
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.19038
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_020987.5(ANK3):c.8895T>C (p.Ala2965=) rs10740006 0.18901
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_001003841.3(SLC6A19):c.754G>A (p.Val252Ile) rs7732589 0.18781
NM_020987.5(ANK3):c.9368A>G (p.Lys3123Arg) rs10821668 0.18742
NM_006031.6(PCNT):c.5994+38T>C rs73907502 0.18733
NM_006031.6(PCNT):c.5994+48T>G rs73379348 0.18721
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_006031.6(PCNT):c.7913+40C>T rs1023161 0.18569
NM_006031.6(PCNT):c.7494+48G>A rs55937012 0.18558
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638 0.18279
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239 0.18176
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273 0.17904
NM_015080.4(NRXN2):c.242T>A (p.Leu81Gln) rs12273892 0.17763
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17747
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_018344.5(SLC29A3):c.-63C>T rs72542481 0.17617
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met) rs2306899 0.17541
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_020987.5(ANK3):c.1218T>C (p.Ile406=) rs2297979 0.17447
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17070
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16998
NM_018249.6(CDK5RAP2):c.1483-29T>G rs2490594 0.16966
NM_002156.5(HSPD1):c.69T>C (p.Thr23=) rs1050347 0.16721
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.16614
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_022095.4(ZNF335):c.3522A>T (p.Pro1174=) rs16990951 0.16529
NM_004525.3(LRP2):c.5859A>G (p.Arg1953=) rs11886219 0.16510
NM_173630.4(RTTN):c.6144A>G (p.Val2048=) rs2304378 0.16509
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16150
NM_001365088.1(SLC12A6):c.2803-25T>C rs17817806 0.16133
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525 0.16017
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_001163809.2(WDR81):c.1716C>T (p.His572=) rs80035274 0.15722
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_001384732.1(CPLANE1):c.4080+27C>T rs78164677 0.15457
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_004525.3(LRP2):c.11601T>C (p.Cys3867=) rs2229268 0.15380
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_004933.3(CDH15):c.1023G>A (p.Ser341=) rs72819366 0.15210
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_006059.4(LAMC3):c.3507C>T (p.Thr1169=) rs3818800 0.14515
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196 0.14152
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser) rs28661939 0.14124
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001184.4(ATR):c.3726-47A>G rs73240314 0.13934
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_030928.4(CDT1):c.549A>G (p.Gly183=) rs1834065 0.13858
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=) rs2281582 0.13125
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=) rs7049300 0.13090
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_006031.6(PCNT):c.640-38T>G rs2839216 0.12924
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_001128164.2(ATXN1):c.474A>G (p.Ala158=) rs2072736 0.12678
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_020987.5(ANK3):c.4201-3T>C rs2393595 0.12356
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=) rs13397109 0.12249
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_005619.5(RTN2):c.96T>C (p.Ser32=) rs10401270 0.12040
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_001368397.1(FRMPD4):c.1401C>G (p.Val467=) rs6641078 0.11823
NM_006031.6(PCNT):c.3465-40C>T rs7279052 0.11767
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
NM_002547.3(OPHN1):c.702+29G>A rs3788859 0.11700
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_017757.3(ZNF407):c.1534G>A (p.Gly512Arg) rs7227263 0.11518
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_017757.3(ZNF407):c.1263C>T (p.Leu421=) rs17817969 0.11505
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_015080.4(NRXN2):c.3327C>T (p.Gly1109=) rs3825074 0.11290
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_001194998.2(CEP152):c.87+26A>G rs72739872 0.11222
NM_012301.4(MAGI2):c.2784T>C (p.Asn928=) rs1009524 0.11193
NM_030928.4(CDT1):c.243T>C (p.Ser81=) rs475667 0.11192
NM_138711.6(PPARG):c.1341C>T (p.His447=) rs3856806 0.11181
NM_004268.5(MED17):c.1092G>A (p.Pro364=) rs34057693 0.11178
NM_015166.4(MLC1):c.597A>G (p.Ser199=) rs6010164 0.11147
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015166.4(MLC1):c.978C>T (p.Cys326=) rs11568186 0.10918
NM_015166.4(MLC1):c.996T>C (p.Ser332=) rs11568187 0.10904
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_000748.3(CHRNB2):c.210+9A>G rs3926124 0.10829
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) rs11166965 0.10684
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_018249.6(CDK5RAP2):c.5578+48C>T rs10984902 0.10631
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_001184.4(ATR):c.1885+39T>C rs73240318 0.10546
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) rs11553876 0.10521
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199 0.10516
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_006059.4(LAMC3):c.75C>T (p.Cys25=) rs13286358 0.10217
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001378615.1(CC2D2A):c.-19+37G>C rs6819598 0.10157
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_014795.4(ZEB2):c.917-21T>C rs35213774 0.10114
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu) rs2295847 0.10087
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10037
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_015215.4(CAMTA1):c.981C>T (p.Asn327=) rs3737906 0.09941
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys) rs41278952 0.09746
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_015426.5(POC1A):c.18+10G>A rs114209632 0.09677
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09661
NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=) rs3746503 0.09613
NM_012156.2(EPB41L1):c.1338T>C (p.His446=) rs2295568 0.09605
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.09596
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163 0.09554
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=) rs7250180 0.09465
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09405
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506 0.09394
NM_001321142.2(CIDEC):c.33C>G (p.Leu11=) rs17851444 0.09372
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_014832.5(TBC1D4):c.606C>T (p.Phe202=) rs17254379 0.09341
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_004525.3(LRP2):c.2376T>C (p.Asp792=) rs33954745 0.09210
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser) rs138675433 0.09012
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) rs61739560 0.08885
NM_001191061.2(SLC25A22):c.293+27G>A rs79478359 0.08883
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) rs57593250 0.08881
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) rs34457678 0.08878
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_001371623.1(TCOF1):c.3604-3C>T rs11743855 0.08821
NM_138711.6(PPARG):c.-8-28078C>G rs1801282 0.08816
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_001368397.1(FRMPD4):c.2007T>C (p.Leu669=) rs67823099 0.08669
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_213622.4(STAMBP):c.1218+20A>G rs2303987 0.08472
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) rs17221819 0.08351
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_198576.4(AGRN):c.5358T>C (p.Gly1786=) rs17160781 0.08292
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_001163809.2(WDR81):c.3831C>T (p.Ala1277=) rs12150338 0.08258
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val) rs2074930 0.08198
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08189
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) rs3026160 0.08178
NM_003194.5(TBP):c.216A>G (p.Gln72=) rs55736770 0.08146
NM_001374828.1(ARID1B):c.3235+38C>T rs9384530 0.08126
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08088
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) rs2614718 0.08065
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_017668.3(NDE1):c.948-53G>A rs7193920 0.07945
NM_014832.5(TBC1D4):c.3440C>T (p.Thr1147Met) rs9600455 0.07900
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211 0.07857
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_002168.4(IDH2):c.996C>T (p.Ser332=) rs61737003 0.07655
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932 0.07623
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07584
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_133444.3(ZNF526):c.281T>C (p.Val94Ala) rs3810151 0.07452
NM_001321142.2(CIDEC):c.600C>T (p.His200=) rs17222536 0.07435
NM_020987.5(ANK3):c.6066C>T (p.Ala2022=) rs17208576 0.07406
NM_020987.5(ANK3):c.8655C>A (p.His2885Gln) rs11599164 0.07405
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_020987.5(ANK3):c.9349A>G (p.Ile3117Val) rs28932171 0.07385
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963 0.07295
NM_001083961.2(WDR62):c.1643-39G>A rs2301735 0.07203
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_017757.3(ZNF407):c.206A>G (p.Asn69Ser) rs3794942 0.07157
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_004722.4(AP4M1):c.812G>A (p.Arg271His) rs41280968 0.07094
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_020944.3(GBA2):c.33C>T (p.Thr11=) rs34312177 0.06991
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06868
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_014832.5(TBC1D4):c.302C>T (p.Ala101Val) rs77685055 0.06802
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_024596.5(MCPH1):c.1936-43T>G rs41311412 0.06799
NM_020987.5(ANK3):c.9137C>G (p.Thr3046Ser) rs74153183 0.06794
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_006059.4(LAMC3):c.1047C>T (p.Gly349=) rs45603838 0.06722
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_005984.5(SLC25A1):c.279T>C (p.Gly93=) rs2070255 0.06611
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06582
NM_006031.6(PCNT):c.7913+32C>T rs57385578 0.06573
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.06565
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192 0.06550
NM_207346.3(TSEN54):c.521+39C>T rs57636645 0.06538
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala) rs16970911 0.06529
NM_207346.3(TSEN54):c.624-37A>C rs73998306 0.06523
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06519
NM_004933.3(CDH15):c.109G>T (p.Ala37Ser) rs2287359 0.06504
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06491
NM_002206.3(ITGA7):c.415-10C>T rs11171661 0.06475
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=) rs61741754 0.06453
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041 0.06417
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270 0.06417
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657 0.06317
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_018943.3(TUBA8):c.1057-7C>T rs2234338 0.06275
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_201384.3(PLEC):c.2658G>A (p.Leu886=) rs78012434 0.06211
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145 0.06185
NM_018943.3(TUBA8):c.897C>T (p.Asn299=) rs362203 0.06153
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.06016
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740 0.05992
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_006031.6(PCNT):c.6150+49C>T rs112334245 0.05936
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733 0.05862
NM_007137.5(ZNF81):c.638C>A (p.Ala213Glu) rs537825 0.05857
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_032119.4(ADGRV1):c.18311-22A>G rs3749605 0.05845
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675 0.05834
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_007137.5(ZNF81):c.1911G>A (p.Pro637=) rs663514 0.05818
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477 0.05793
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001384732.1(CPLANE1):c.570+32G>A rs10072236 0.05734
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998 0.05666
NM_004268.5(MED17):c.516C>T (p.Thr172=) rs7119915 0.05663
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754 0.05655
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016 0.05655
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05562
NM_004268.5(MED17):c.342T>C (p.Asp114=) rs16919376 0.05535
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_001379110.1(SLC9A6):c.1306+8G>A rs6654310 0.05510
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_213622.4(STAMBP):c.12T>C (p.His4=) rs919629 0.05408
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_201525.4(ADGRG1):c.1286+6G>A rs74326170 0.05376
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05313
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05312
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_002168.4(IDH2):c.1050C>T (p.Thr350=) rs11540478 0.05301
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210 0.05093
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396 0.05078
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_001184.4(ATR):c.3172-26T>A rs76852171 0.05061
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_198576.4(AGRN):c.3516+10G>C rs76264143 0.05034
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=) rs17117883 0.05018
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) rs11768079 0.04978
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090 0.04903
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
NM_006031.6(PCNT):c.1937-44G>A rs17297961 0.04884
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_138501.6(TECR):c.618C>T (p.Leu206=) rs59273619 0.04819
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244 0.04812
NM_001109809.5(ZFP57):c.1103A>T (p.Asp368Val) rs2535241 0.04806
NM_004525.3(LRP2):c.6759T>C (p.Asp2253=) rs35114151 0.04805
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_182914.3(SYNE2):c.16722A>G (p.Gln5574=) rs17101704 0.04797
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_198576.4(AGRN):c.4996G>A (p.Val1666Ile) rs17160775 0.04750
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val) rs3742884 0.04741
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala) rs17038460 0.04732
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu) rs3742885 0.04730
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981 0.04683
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=) rs112173070 0.04668
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_018294.6(CWF19L1):c.720G>A (p.Ala240=) rs17112787 0.04645
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_020987.5(ANK3):c.8013C>T (p.Ser2671=) rs41274674 0.04537
NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=) rs61753881 0.04533
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=) rs76517176 0.04500
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_001184.4(ATR):c.4383-47A>G rs58348002 0.04498
NM_004268.5(MED17):c.1548T>C (p.Tyr516=) rs16919389 0.04492
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=) rs74693100 0.04490
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_001378615.1(CC2D2A):c.541-25G>T rs16892080 0.04468
NM_006279.5(ST3GAL3):c.892-9G>A rs80055718 0.04438
NM_006059.4(LAMC3):c.3790C>T (p.Arg1264Trp) rs11244275 0.04427
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_004525.3(LRP2):c.4236G>C (p.Arg1412=) rs34915742 0.04398
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143 0.04393
NM_004525.3(LRP2):c.4046-6T>C rs76714416 0.04392
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_025114.4(CEP290):c.942+28T>C rs56149649 0.04349
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200 0.04316
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_001184.4(ATR):c.5381-41C>T rs34502778 0.04288
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) rs35775257 0.04275
NM_001109809.5(ZFP57):c.559C>T (p.Arg187Cys) rs61730330 0.04274
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_153704.6(TMEM67):c.406+1361C>T rs73324992 0.04251
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001083961.2(WDR62):c.1768+28G>A rs77938609 0.04228
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_138501.6(TECR):c.799+6C>T rs10405483 0.04190
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_001374828.1(ARID1B):c.1986+28T>C rs73572289 0.04166
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_182914.3(SYNE2):c.14776T>C (p.Leu4926=) rs8007874 0.04106
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
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_004525.3(LRP2):c.13155C>T (p.His4385=) rs16856476 0.04079
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.04078
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=) rs16830192 0.04050
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987 0.04048
NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu) rs41280276 0.04003
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369 0.03993
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03978
NM_030928.4(CDT1):c.1500G>T (p.Leu500=) rs3218720 0.03976
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_025114.4(CEP290):c.5709+25A>C rs17015438 0.03950
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493 0.03919
NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768 0.03914
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465 0.03914
NM_022095.4(ZNF335):c.2703C>T (p.Ser901=) rs3746504 0.03894
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001083961.2(WDR62):c.561+44C>G rs115806759 0.03880
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_182914.3(SYNE2):c.4536A>G (p.Thr1512=) rs11158524 0.03853
NM_004525.3(LRP2):c.3836A>C (p.Asp1279Ala) rs17848149 0.03848
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656 0.03822
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03806
NM_020987.5(ANK3):c.2565T>C (p.Asn855=) rs10994234 0.03800
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_001843.4(CNTN1):c.1893T>C (p.His631=) rs2229929 0.03763
NM_182914.3(SYNE2):c.14737G>A (p.Glu4913Lys) rs12881815 0.03757
NM_144508.5(KNL1):c.245T>C (p.Met82Thr) rs79413475 0.03753
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_025114.4(CEP290):c.7035-38C>G rs45477492 0.03735
NM_004993.6(ATXN3):c.891A>G (p.Gln297=) rs12896583 0.03723
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 0.03705
NM_001753.5(CAV1):c.156C>T (p.Val52=) rs10029 0.03703
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442 0.03691
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03687
NM_032531.4(KIRREL3):c.568A>G (p.Ile190Val) rs111418068 0.03684
NM_201384.3(PLEC):c.11913G>A (p.Ala3971=) rs73715559 0.03658
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) rs58836306 0.03656
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_022095.4(ZNF335):c.1623C>T (p.His541=) rs16990964 0.03634
NM_022095.4(ZNF335):c.2253+10G>T rs6130977 0.03629
NM_025114.4(CEP290):c.2368-37T>G rs115837670 0.03623
NM_004615.4(TSPAN7):c.441C>T (p.Ser147=) rs111440990 0.03616
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368 0.03610
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=) rs8055909 0.03578
NM_138501.6(TECR):c.462C>A (p.Gly154=) rs76484116 0.03573
NM_015426.5(POC1A):c.1044G>T (p.Gln348His) rs35898691 0.03568
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070 0.03565
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_016648.4(LARP7):c.10G>A (p.Glu4Lys) rs79383654 0.03552
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_001365088.1(SLC12A6):c.1944-26C>T rs34807905 0.03484
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_001324144.2(ZNF41):c.374T>G (p.Ile125Arg) rs17147624 0.03453
NM_181741.4(ORC4):c.166C>G (p.Leu56Val) rs2307397 0.03439
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235 0.03438
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_016648.4(LARP7):c.836G>A (p.Arg279Gln) rs62317770 0.03420
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03419
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03418
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679 0.03417
NM_001184.4(ATR):c.3725+18A>G rs73864554 0.03416
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268 0.03416
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=) rs17104689 0.03409
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03307
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_001083961.2(WDR62):c.4153+37C>G rs58041656 0.03299
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354 0.03286
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697 0.03281
NM_182914.3(SYNE2):c.2409C>A (p.Ser803=) rs17101525 0.03277
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03213
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_001190417.2(ZNF674):c.1013C>T (p.Thr338Met) rs61730637 0.03202
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073 0.03149
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_003383.5(VLDLR):c.944-5T>C rs35782329 0.03136
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys) rs34605667 0.03134
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186 0.03124
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707 0.03104
NM_032119.4(ADGRV1):c.13232-7A>G rs2438358 0.03097
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=) rs73750958 0.03087
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333 0.03061
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_020987.5(ANK3):c.909A>C (p.Thr303=) rs73269474 0.03053
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_001083961.2(WDR62):c.3514+44G>A rs45468494 0.03042
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_001324144.2(ZNF41):c.660T>G (p.Asn220Lys) rs34301930 0.03028
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_020987.5(ANK3):c.12769A>G (p.Ile4257Val) rs12261793 0.03012
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_005573.4(LMNB1):c.432G>A (p.Ser144=) rs34224885 0.02972
NM_198576.4(AGRN):c.261C>T (p.Asp87=) rs6657048 0.02966
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949 0.02942
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02941
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_020987.5(ANK3):c.2124T>C (p.Asp708=) rs34552044 0.02906
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) rs56908561 0.02903
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) rs56691712 0.02899
NM_025114.4(CEP290):c.297+36A>G rs45468703 0.02898
NM_173630.4(RTTN):c.4940+7G>A rs17082039 0.02895
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
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_001384732.1(CPLANE1):c.94G>A (p.Val32Ile) rs73750959 0.02866
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr) rs17379472 0.02860
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_133444.3(ZNF526):c.1662C>T (p.Val554=) rs111722832 0.02840
NM_001130438.3(SPTAN1):c.2872-42G>A rs4307429 0.02839
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile) rs17108378 0.02833
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262 0.02821
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02813
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys) rs73775407 0.02812
NM_025265.4(TSEN2):c.909+34G>A rs78943415 0.02811
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02801
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02789
NM_004525.3(LRP2):c.7894A>G (p.Asn2632Asp) rs17848169 0.02788
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322 0.02768
NM_025009.5(CEP135):c.335G>A (p.Arg112His) rs77591659 0.02766
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=) rs2307131 0.02758
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_004826.4(ECEL1):c.1797-10G>A rs76290356 0.02730
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_182961.4(SYNE1):c.26002-4A>G rs77220999 0.02717
NM_004993.6(ATXN3):c.883A>C (p.Lys295Gln) rs12896588 0.02716
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647 0.02693
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752 0.02687
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_001367721.1(CASK):c.1234-22G>A rs5963260 0.02684
NM_001367721.1(CASK):c.1234-30G>A rs5964019 0.02683
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
NM_173560.4(RFX6):c.50C>A (p.Ala17Glu) rs9489056 0.02675
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02665
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) rs1124894 0.02647
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_015080.4(NRXN2):c.246G>A (p.Leu82=) rs12293481 0.02638
NM_001082538.3(TCTN1):c.473-10T>A rs12307716 0.02637
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02635
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02589
NM_001082538.3(TCTN1):c.341+46G>T rs80078413 0.02579
NM_001904.4(CTNNB1):c.1516C>T (p.Leu506=) rs3856748 0.02575
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=) rs16887018 0.02568
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) rs117054456 0.02550
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_002025.4(AFF2):c.1653A>G (p.Thr551=) rs16994869 0.02513
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900 0.02496
NM_152783.5(D2HGDH):c.292+9G>A rs148813816 0.02496
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02484
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847 0.02463
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys) rs77664442 0.02460
NM_004993.6(ATXN3):c.882A>G (p.Gln294=) rs12896589 0.02453
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039 0.02440
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
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_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_003659.4(AGPS):c.207A>G (p.Ala69=) rs34744592 0.02410
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=) rs11905235 0.02405
NM_001843.4(CNTN1):c.401-9C>T rs57340925 0.02401
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_025009.5(CEP135):c.2976C>G (p.Thr992=) rs35143702 0.02394
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_025009.5(CEP135):c.3075T>C (p.Asn1025=) rs61753870 0.02389
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=) rs12008084 0.02382
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02380
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_005677.4(COLQ):c.1248C>T (p.Asp416=) rs55866379 0.02373
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met) rs34725742 0.02357
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001365088.1(SLC12A6):c.2042+32C>A rs79436830 0.02352
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115 0.02341
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_020987.5(ANK3):c.402T>C (p.Asn134=) rs1031688 0.02324
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147 0.02316
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg) rs7702892 0.02310
NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118 0.02309
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518 0.02308
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513 0.02290
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_001130438.3(SPTAN1):c.1462-27T>A rs7040737 0.02284
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020 0.02268
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_002470.4(MYH3):c.6T>C (p.Ser2=) rs17817203 0.02219
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_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val) rs61733129 0.02206
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_182914.3(SYNE2):c.11385G>A (p.Lys3795=) rs34954189 0.02196
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=) rs34796297 0.02187
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) rs35723243 0.02185
NM_020987.5(ANK3):c.11685C>T (p.Ser3895=) rs7923682 0.02183
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_182914.3(SYNE2):c.8422C>T (p.Leu2808=) rs35960129 0.02175
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_020987.5(ANK3):c.1491+6C>T rs76733192 0.02170
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02162
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_016553.5(NUP62):c.549G>A (p.Thr183=) rs1984656 0.02153
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127 0.02151
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_173630.4(RTTN):c.4748-5A>G rs28495061 0.02113
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=) rs2241683 0.02108
NM_000426.4(LAMA2):c.1533T>C (p.Asn511=) rs9492266 0.02106
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_020921.4(NIN):c.5509T>A (p.Ser1837Thr) rs12717411 0.02104
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273 0.02073
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_002206.3(ITGA7):c.2433-5G>A rs79745402 0.02069
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_002472.3(MYH8):c.1701G>A (p.Gln567=) rs73275411 0.02065
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_173630.4(RTTN):c.2856A>G (p.Leu952=) rs35139926 0.02051
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047