ClinVar Miner

Variants from Fulgent Genetics, Fulgent Genetics with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Fulgent Genetics, Fulgent Genetics: Collection method of the submission from Fulgent Genetics, Fulgent Genetics:
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
27306 13744 53 4082 1809 79 544 6336

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
Fulgent Genetics, Fulgent Genetics pathogenic likely pathogenic uncertain significance likely benign benign affects association confers sensitivity drug response likely risk allele pathogenic, low penetrance protective risk factor uncertain risk allele other
pathogenic 14 893 82 6 3 5 0 0 4 0 2 0 20 0 14
likely pathogenic 1140 19 101 2 3 1 0 0 2 0 0 0 3 0 6
uncertain significance 168 206 2 1400 284 1 0 0 0 0 0 0 6 1 5
likely benign 17 4 152 3 1875 0 0 0 0 1 0 0 5 1 1
benign 5 2 21 175 15 0 2 1 0 0 0 1 1 0 0

Submitter to submitter summary #

Total submitters: 315
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
Invitae 0 8919 0 1861 1324 3 166 3354
Illumina Laboratory Services, Illumina 0 2549 0 592 50 0 19 661
Baylor Genetics 0 1550 0 354 2 0 64 420
Counsyl 0 876 0 361 3 0 16 380
Genome-Nilou Lab 0 1215 0 324 9 0 3 336
OMIM 0 707 0 193 3 66 64 326
Natera, Inc. 0 2085 0 203 92 0 4 299
Ambry Genetics 0 1178 0 65 173 0 4 242
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 496 0 222 13 0 2 237
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 827 0 192 22 0 10 224
Revvity Omics, Revvity 0 1140 0 137 23 0 23 183
GeneDx 0 972 0 143 26 0 13 182
PreventionGenetics, part of Exact Sciences 0 486 0 84 34 0 0 118
CeGaT Center for Human Genetics Tuebingen 0 281 0 54 32 0 4 90
Mendelics 0 196 0 54 13 0 2 69
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 261 0 50 11 1 4 66
Myriad Genetics, Inc. 0 203 0 57 7 0 2 66
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 138 0 49 12 0 2 63
Color Diagnostics, LLC DBA Color Health 0 224 0 29 26 0 6 61
Athena Diagnostics Inc 0 98 0 53 4 0 1 58
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 118 0 37 1 0 20 58
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 129 0 51 5 0 1 57
All of Us Research Program, National Institutes of Health 0 539 0 23 11 0 23 57
Genetic Services Laboratory, University of Chicago 0 232 0 50 5 0 0 55
Eurofins Ntd Llc (ga) 0 208 0 41 10 2 0 53
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 18 22 0 0 6 46
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 27 0 45 0 0 1 46
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 132 0 37 4 0 1 42
3billion 0 191 0 35 0 0 6 41
MGZ Medical Genetics Center 0 102 0 36 0 0 4 40
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 203 0 31 1 0 8 40
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 125 0 31 7 0 0 38
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 107 0 31 1 0 5 37
LDLR-LOVD, British Heart Foundation 0 30 0 27 3 0 4 34
Institute of Human Genetics, University of Leipzig Medical Center 0 131 0 26 2 0 5 33
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 26 0 15 3 0 15 33
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 31 20 8 4 0 0 32
Clinical Biochemistry Laboratory, Health Services Laboratory 0 37 0 18 6 0 6 30
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 77 0 29 1 0 0 30
Department of Pathology and Laboratory Medicine, Sinai Health System 0 80 0 15 9 0 6 30
Neuberg Centre For Genomic Medicine, NCGM 0 106 0 26 0 0 4 30
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 61 0 27 0 0 2 29
Mayo Clinic Laboratories, Mayo Clinic 0 169 0 27 2 0 0 29
Quest Diagnostics Nichols Institute San Juan Capistrano 0 230 0 20 7 0 1 28
Leiden Open Variation Database 0 50 0 19 1 0 8 28
Sema4, Sema4 0 71 0 10 16 0 0 26
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 14 0 18 3 0 5 26
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 50 0 23 3 0 0 26
GeneReviews 0 361 14 5 0 0 5 24
Genomics England Pilot Project, Genomics England 0 27 0 22 0 0 2 24
NIHR Bioresource Rare Diseases, University of Cambridge 0 18 0 20 0 0 2 22
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 69 0 21 0 0 0 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 183 0 8 10 0 3 21
Clinical Genetics, Academic Medical Center 0 55 0 19 0 0 1 20
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 13 0 18 2 0 0 20
Robarts Research Institute, Western University 0 7 0 18 1 0 1 20
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 63 0 18 0 0 1 19
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 107 0 17 0 0 2 19
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 36 0 12 1 0 6 19
Sharing Clinical Reports Project (SCRP) 0 15 0 13 5 0 0 18
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 65 0 14 0 0 4 18
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 58 0 18 0 0 0 18
Michigan Medical Genetics Laboratories, University of Michigan 0 6 0 16 1 0 0 17
Division of Human Genetics, Children's Hospital of Philadelphia 0 47 0 14 1 0 2 17
SIB Swiss Institute of Bioinformatics 0 8 0 17 0 0 0 17
ClinGen PAH Variant Curation Expert Panel 0 61 0 17 0 0 0 17
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 7 0 14 0 0 2 16
New York Genome Center 0 179 0 11 4 0 1 16
Molecular Biology Laboratory, Fundació Puigvert 0 26 0 15 0 0 1 16
Genetics and Molecular Pathology, SA Pathology 0 80 0 13 0 0 2 15
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 58 0 12 1 0 1 14
Reproductive Health Research and Development, BGI Genomics 0 30 0 7 1 1 5 14
Fundacion Hipercolesterolemia Familiar 0 17 0 12 0 0 1 13
Centogene AG - the Rare Disease Company 0 63 0 12 0 0 0 12
Breast Cancer Information Core (BIC) (BRCA2) 0 15 0 7 5 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 59 0 11 1 0 0 12
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 28 0 3 5 0 3 11
CSER _CC_NCGL, University of Washington 0 26 0 1 8 0 2 11
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 54 0 9 1 0 1 11
DASA 0 52 0 11 0 0 0 11
Breast Cancer Information Core (BIC) (BRCA1) 0 4 0 1 8 0 1 10
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 66 0 10 0 0 0 10
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 11 0 8 0 0 2 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 41 0 6 0 0 4 10
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 27 0 10 0 0 0 10
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 21 0 7 1 0 2 10
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 29 0 5 2 0 3 10
Blueprint Genetics 0 53 0 8 0 0 1 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 24 0 7 0 0 2 9
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 13 0 8 0 0 1 9
Undiagnosed Diseases Network, NIH 0 22 0 6 0 0 3 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 58 0 9 0 0 0 9
Iberoamerican FH Network 0 10 0 8 0 0 1 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 72 0 7 0 0 2 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 27 0 8 0 0 0 8
RettBASE 0 4 0 7 1 0 0 8
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 16 0 7 0 0 1 8
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 25 0 6 0 0 2 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 29 0 8 0 0 0 8
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 31 0 8 0 0 0 8
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 15 0 7 0 0 1 8
Lifecell International Pvt. Ltd 0 20 0 8 0 0 0 8
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 6 0 8 0 0 0 8
Database of Curated Mutations (DoCM) 0 1 0 7 0 0 0 7
Ocular Genomics Institute, Massachusetts Eye and Ear 0 20 0 7 0 0 0 7
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 27 0 3 1 1 2 7
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 6 0 3 1 2 1 7
Molecular Genetics, Royal Melbourne Hospital 0 32 0 7 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 10 0 3 3 0 0 6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 10 0 5 0 0 1 6
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 1 0 0 0 0 6 6
PharmGKB 0 0 0 0 0 6 0 6
Pathway Genomics 0 4 0 6 0 0 0 6
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 4 0 0 2 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 43 0 6 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 21 0 5 0 0 1 6
Yale Center for Mendelian Genomics, Yale University 0 5 0 4 0 0 2 6
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 10 0 4 0 0 2 6
Johns Hopkins Genomics, Johns Hopkins University 0 49 0 5 0 0 1 6
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 34 0 6 0 0 0 6
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 4 0 6 0 0 0 6
BRCAlab, Lund University 0 7 0 5 1 0 0 6
Clinical Genetics and Genomics, Karolinska University Hospital 0 39 0 4 0 0 1 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 29 0 5 0 0 0 5
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 0 3 0 3 0 0 2 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 56 0 5 0 0 0 5
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 25 0 5 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 6 0 3 1 0 1 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 18 0 5 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 37 0 4 0 1 0 5
Cavalleri Lab, Royal College of Surgeons in Ireland 0 26 0 3 0 0 2 5
Department of Pediatrics, Gifu University 0 3 0 5 0 0 0 5
Pars Genome Lab 0 11 0 4 0 0 1 5
Paris Brain Institute, Inserm - ICM 0 7 0 3 1 0 1 5
Suma Genomics 0 10 0 4 0 0 1 5
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 30 0 5 0 0 0 5
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 16 0 1 0 0 4 5
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 2 0 0 2 4
University Children's Hospital, University of Zurich 0 3 0 4 0 0 0 4
Albrecht-Kossel-Institute, Medical University Rostock 0 1 0 1 0 0 3 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 10 0 4 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 0 13 0 3 1 0 0 4
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 5 0 2 1 0 1 4
Inherited Neuropathy Consortium 0 0 0 1 0 0 3 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 29 0 2 0 0 2 4
Institute of Human Genetics, University Hospital Muenster 0 8 0 4 0 0 0 4
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 5 0 4 0 0 0 4
Giacomini Lab, University of California, San Francisco 0 8 0 1 1 0 2 4
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 12 0 2 0 0 2 4
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 7 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 8 0 1 1 0 1 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 3 0 3 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 18 0 1 0 0 2 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 8 0 3 0 0 0 3
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 20 0 2 0 0 1 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 7 0 1 0 0 2 3
UCLA Clinical Genomics Center, UCLA 0 0 0 3 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 6 0 0 2 0 1 3
Hadassah Hebrew University Medical Center 0 3 0 3 0 0 0 3
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 5 0 2 1 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 6 0 3 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 3 0 0 0 3
Department of Pathology and Molecular Medicine, Queen's University 0 2 0 2 1 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 0 4 0 1 0 0 2 3
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 23 0 3 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 37 0 2 1 0 0 3
Clingen PTEN Variant Curation Expert Panel, Clingen 0 11 0 0 3 0 0 3
Genomic Medicine Lab, University of California San Francisco 0 4 0 2 0 0 1 3
Gharavi Laboratory, Columbia University 0 10 0 0 0 0 3 3
Breda Genetics srl 0 10 0 2 1 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 2 0 3 0 0 0 3
Genesis Genome Database 0 0 0 0 0 0 3 3
Clinical Genomics Program, Stanford Medicine 0 8 0 3 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 36 0 2 0 0 1 3
APRT Deficiency Research Program of the Rare Kidney Stone Consortium, Landspitali, National University Hospital of Iceland 0 3 0 3 0 0 0 3
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 1 0 2 0 0 1 3
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 0 5 0 1 0 0 2 3
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 5 0 3 0 0 0 3
Molecular Genetics Laboratory, London Health Sciences Centre 0 9 0 2 0 0 0 2
King Laboratory, University of Washington 0 5 0 1 0 0 1 2
Institute of Human Genetics, Cologne University 0 10 0 2 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 2 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 6 0 2 0 0 0 2
Centre for Human Genetics 0 2 0 2 0 0 0 2
GeneKor MSA 0 37 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1 1 2
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 2 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 9 0 2 0 0 0 2
Laboratory of Metabolic Disorders, Peking University First Hospital 0 2 0 1 0 0 1 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 1 0 0 1 2
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 2 0 0 1 0 1 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 3 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 8 0 1 0 0 1 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 0 0 2 0 0 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 1 0 2 0 0 0 2
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 0 2 0 2 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 7 0 0 0 0 2 2
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 6 0 2 0 0 0 2
deCODE genetics, Amgen 0 0 0 2 0 0 0 2
CZECANCA consortium 0 17 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 5 0 2 0 0 0 2
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 9 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 6 0 2 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 7 0 1 0 0 1 2
Laboratory of Molecular Genetics, Children's Memorial Health Institute 0 0 0 1 0 0 1 2
Precision Medicine Center, Zhengzhou University 0 0 0 1 0 0 1 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 7 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 9 0 1 0 0 1 2
DBGen Ocular Genomics 0 1 0 2 0 0 0 2
Baumgartner lab, University Children's Hospital Zurich 0 1 0 1 0 0 1 2
Eurofins-Biomnis 0 5 0 2 0 0 0 2
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 0 5 0 2 0 0 0 2
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 2 2
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 3 0 1 0 0 1 2
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 0 4 0 2 0 0 0 2
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 9 0 1 1 0 0 2
Vasylyeva lab, Texas Tech University Health Sciences Center 0 3 0 2 0 0 0 2
Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories 0 0 0 1 0 0 0 1
Institute for Human Genetics, University Medical Center Freiburg 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 6 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 4 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 17 0 0 0 0 1 1
BloodGenetics 0 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 15 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 47369 16 0 1 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 0 1 0 0 1
Familial Cancer Clinic, Veneto Institute of Oncology 0 0 0 0 0 0 1 1
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 6 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 2 0 1 0 0 0 1
National Center for Biotechnology Information, National Institutes of Health 0 3 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 0 0 0 1 1
Clinical Genetics Research Group, University of Calgary 0 0 0 1 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 1 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 1 1
Center for Individualized Medicine, Mayo Clinic 0 0 0 1 0 0 0 1
Language and Genetics Department, Max Planck Institute for Psycholinguistics 0 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 2 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 6 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 0 1 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 10 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 0 1 0 0 0 1
Biology Pathology Center, Lille University Hospital 0 1 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 0 2 0 1 0 0 0 1
Department of Medical Genetics, University Hospital of North Norway 0 2 0 1 0 0 0 1
Shendure Lab, University of Washington 0 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 1 0 0 0 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 0 0 0 0 0 0 1 1
Neurology Department, Peking University First Hospital 0 4 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 1 0 0 0 1
National Newborn Screening Laboratory, Hospital Nacional de Niños 0 3 0 1 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 0 0 0 1 0 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 0 3 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 11 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 3 0 1 0 0 0 1
Center for Medical Genetics, GenVams Trust 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 1 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 0 1 0 0 1
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic 0 0 0 0 0 0 1 1
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 0 0 1
Division of Nephrology, Beth Israel Deaconess Medical Center 0 0 0 0 0 0 1 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 0 0 1 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 0 0 0 0 0 1 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 0 0 0 1 1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 0 4 0 1 0 0 0 1
Molecular Diagnosis Center for Deafness 0 1 0 1 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 0 0 0 1 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 6 0 0 0 0 1 1
Department of Pathophysiology and Transplantation, University of Milan 0 1 0 1 0 0 0 1
Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital 0 0 0 0 0 0 1 1
Pediatric Department, Xiangya Hospital, Central South University 0 5 0 1 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 2 0 1 0 0 0 1
Centre for Human Genetics, University of Kinshasa 0 0 0 1 0 0 0 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 0 0 0 1 0 0 1
School of Computer Science, University of Waterloo 0 0 0 1 0 0 0 1
Phenosystems SA 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 16 0 0 0 0 1 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 4 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 8 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 4 0 0 1 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 0 0 0 1 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 0 0 0 0 1 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 1 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 0 1 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 14 0 0 0 0 1 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 3 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 13 0 1 0 0 0 1
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 0 2 0 0 1 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 1 0 0 0 0 1 1
Dept Of Ophthalmology, Nagoya University 0 8 0 1 0 0 0 1
Rare Disease Genomics Group, St George's University of London 0 2 0 1 0 0 0 1
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 0 8 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 6336
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_000511.6(FUT2):c.461G>A (p.Trp154Ter) rs601338 0.45281
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
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_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
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_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000125.4(ESR1):c.1782G>A (p.Thr594=) rs2228480 0.17850
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) rs17261572 0.15825
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_003283.6(TNNT1):c.47-13C>T rs11669534 0.11553
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) rs33962975 0.11278
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) rs8177374 0.10979
NM_139281.3(WDR36):c.1717-20T>A rs59359951 0.10369
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.05916
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_018979.4(WNK1):c.759+15A>C rs11064518 0.05581
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_003690.5(PRKRA):c.549T>C (p.Asn183=) rs61746229 0.04819
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=) rs60199637 0.04502
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_003227.4(TFR2):c.714C>G (p.Ile238Met) rs34242818 0.03989
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_001846.4(COL4A2):c.549+15G>C rs74124318 0.03560
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906 0.03091
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02997
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala) rs62640903 0.02854
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_018122.5(DARS2):c.663+8T>C rs73037062 0.02691
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_032387.5(WNK4):c.1477-13A>G rs61754357 0.02638
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847 0.02403
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_001012750.3(ABI1):c.*1940A>C rs1046187 0.02265
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His) rs36003153 0.02243
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_053013.3(ENO3):c.-88G>A rs73343373 0.01987
NM_001394090.1(CFAP92):c.3281-2342G>A rs116106966 0.01973
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr) rs57472891 0.01957
NM_001374736.1(DST):c.17923-10A>G rs116504133 0.01889
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01852
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_005045.4(RELN):c.6672-16C>T rs79610318 0.01836
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_001127222.2(CACNA1A):c.3989+16A>G rs149764550 0.01798
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_007357.3(COG2):c.1765G>A (p.Val589Ile) rs34109129 0.01764
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_006070.6(TFG):c.416-9T>C rs115896544 0.01708
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_198578.4(LRRK2):c.6844-14_6844-13insA rs150964683 0.01681
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_003124.5(SPR):c.-7C>G rs184034436 0.01663
NM_024996.7(GFM1):c.-11C>T rs112860155 0.01649
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_002160.4(TNC):c.6006G>A (p.Leu2002=) rs61736828 0.01597
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140 0.01571
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=) rs34094363 0.01557
NM_001571.6(IRF3):c.432G>C (p.Leu144=) rs74980832 0.01556
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_018026.4(PACS1):c.957C>G (p.Thr319=) rs76179533 0.01539
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln) rs61738263 0.01534
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_144701.3(IL23R):c.491+17C>T rs75363634 0.01509
NM_030787.4(CFHR5):c.507C>T (p.Asp169=) rs34533956 0.01500
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr) rs111303994 0.01475
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_002225.5(IVD):c.*2285C>G rs114657778 0.01453
NM_030787.4(CFHR5):c.254-8T>G rs114023763 0.01451
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu) rs74050429 0.01450
NM_030787.4(CFHR5):c.330A>C (p.Val110=) rs61745675 0.01447
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=) rs76779558 0.01418
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_003355.3(UCP2):c.750C>T (p.Tyr250=) rs45526034 0.01354
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_139125.4(MASP1):c.1386G>A (p.Pro462=) rs35384947 0.01342
NM_005076.5(CNTN2):c.391+12G>A rs16855012 0.01337
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894 0.01330
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_198578.4(LRRK2):c.5509+20A>C rs11564134 0.01309
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_005996.4(TBX3):c.2082A>G (p.Lys694=) rs34831817 0.01295
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_006348.5(COG5):c.539-17G>A rs150929025 0.01278
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883 0.01276
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01262
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=) rs7156297 0.01255
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) rs72998118 0.01233
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_013335.4(GMPPA):c.213C>T (p.Ala71=) rs41272703 0.01225
NM_000170.3(GLDC):c.2203-19G>A rs13440229 0.01223
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200 0.01220
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
NM_017947.4(MOCOS):c.15G>A (p.Ala5=) rs145568479 0.01199
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845 0.01198
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=) rs113646094 0.01182
NM_198578.4(LRRK2):c.867C>T (p.Asn289=) rs17490713 0.01182
NM_032409.3(PINK1):c.1173T>C (p.Asp391=) rs45499398 0.01177
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_001374736.1(DST):c.3495-17T>C rs74865335 0.01174
NM_004268.5(MED17):c.1482A>G (p.Gln494=) rs34380494 0.01172
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646 0.01167
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_032387.5(WNK4):c.1719C>T (p.His573=) rs56243382 0.01157
NM_000133.4(F9):c.278-27A>G rs3134809 0.01152
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=) rs60039430 0.01134
NM_005589.4(ALDH6A1):c.*2517T>C rs145794069 0.01119
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_003183.6(ADAM17):c.2240C>T (p.Ser747Leu) rs55796712 0.01113
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_017534.6(MYH2):c.2967A>G (p.Ala989=) rs113190032 0.01110
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_002168.4(IDH2):c.993G>A (p.Thr331=) rs61737002 0.01104
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01104
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) rs114926004 0.01089
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_172364.5(CACNA2D4):c.487-4C>T rs60194757 0.01079
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) rs73970129 0.01063
NM_016327.3(UPB1):c.873+9C>T rs111674727 0.01060
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_032387.5(WNK4):c.2029C>T (p.Arg677Trp) rs9896991 0.01047
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_001963.6(EGF):c.1380A>G (p.Glu460=) rs11568953 0.01036
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_001366385.1(CARD14):c.2267G>A (p.Cys756Tyr) rs34822755 0.01019
NM_017838.4(NHP2):c.351C>T (p.Ala117=) rs115334254 0.01019
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_001318789.2(TLR2):c.1626C>G (p.Leu542=) rs5743701 0.01010
NM_014694.4(ADAMTSL2):c.1230C>T (p.Ala410=) rs369962641 0.01009
NM_014423.4(AFF4):c.2892A>G (p.Lys964=) rs34434281 0.01004
NM_014384.3(ACAD8):c.210+6C>T rs148089913 0.01003
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=) rs115456625 0.00993
NM_000789.4(ACE):c.1119-8C>T rs114861086 0.00991
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_001567.4(INPPL1):c.909G>C (p.Lys303Asn) rs17847215 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=) rs35416748 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_017947.4(MOCOS):c.2599G>A (p.Val867Met) rs79823152 0.00979
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=) rs61751499 0.00977
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456 0.00975
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_017570.5(OPLAH):c.3571C>T (p.Leu1191=) rs61740339 0.00958
NM_002838.5(PTPRC):c.1052A>G (p.Asn351Ser) rs79141749 0.00956
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) rs61744200 0.00956
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_006267.5(RANBP2):c.1209C>T (p.Ser403=) rs140275032 0.00951
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_006267.5(RANBP2):c.1632-16T>C rs147266881 0.00948
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=) rs146781600 0.00943
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) rs7598640 0.00939
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_017947.4(MOCOS):c.1465C>T (p.Arg489Cys) rs35980997 0.00937
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_024921.4(POF1B):c.113A>C (p.Gln38Pro) rs142588591 0.00932
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00929
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_021942.6(TRAPPC11):c.1422-3G>A rs73872662 0.00921
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys) rs199720608 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_005589.4(ALDH6A1):c.731-12T>C rs10146187 0.00912
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_014252.4(SLC25A15):c.623-17A>G rs191780003 0.00905
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000187.4(HGD):c.1179T>C (p.Asp393=) rs146482816 0.00886
NM_201596.3(CACNB2):c.1785C>T (p.His595=) rs61733967 0.00879
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 0.00877
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile) rs4455261 0.00874
NM_000169.2(GLA):c.-30G>A rs3027584 0.00873
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) rs144319016 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00867
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_001382.4(DPAGT1):c.918-18G>A rs145206990 0.00859
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_080424.4(SP110):c.1447G>A (p.Gly483Arg) rs149485401 0.00856
NM_145207.3(AFG2A):c.1785G>T (p.Val595=) rs62324113 0.00855
NM_000320.3(QDPR):c.436+19A>G rs112111831 0.00851
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_000083.3(CLCN1):c.1065-16T>C rs113764654 0.00833
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_033124.5(CCDC65):c.1021G>T (p.Asp341Tyr) rs117646559 0.00829
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_002168.4(IDH2):c.429G>C (p.Leu143=) rs144712130 0.00824
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_001148.6(ANK2):c.3379+12T>G rs139528815 0.00812
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_024589.3(ROGDI):c.433-15C>T rs114103417 0.00806
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306 0.00805
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala) rs11833299 0.00803
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=) rs61739601 0.00801
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_014762.4(DHCR24):c.360C>T (p.Asp120=) rs61733134 0.00798
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_032415.7(CARD11):c.1923G>A (p.Arg641=) rs41405944 0.00786
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231 0.00776
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_004211.5(SLC6A5):c.342C>G (p.Pro114=) rs61736605 0.00773
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) rs769938205 0.00770
NM_003793.4(CTSF):c.1322-19G>A rs73505406 0.00770
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=) rs34176522 0.00770
NM_003764.4(STX11):c.146G>A (p.Arg49Gln) rs17073498 0.00767
NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg) rs149219011 0.00766
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_000078.3(CETP):c.460C>T (p.Arg154Trp) rs34716057 0.00764
NM_153460.4(IL17RC):c.1522+1G>C rs148575246 0.00763
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00761
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_006031.6(PCNT):c.8065-19G>A rs78561636 0.00750
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_001349253.2(SCN11A):c.3819A>G (p.Glu1273=) rs148945365 0.00741
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_021926.4(ALX4):c.63C>T (p.Tyr21=) rs61737298 0.00736
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg) rs56394458 0.00732
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_017831.4(RNF125):c.489G>A (p.Ser163=) rs79205763 0.00732
NM_031443.4(CCM2):c.984G>A (p.Gly328=) rs112504276 0.00732
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=) rs115182478 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392 0.00720
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) rs4640000 0.00717
NM_033343.4(LHX4):c.384C>T (p.Asp128=) rs141139762 0.00712
NM_017947.4(MOCOS):c.981G>A (p.Ala327=) rs35497696 0.00711
NM_145020.5(CFAP53):c.305G>A (p.Arg102His) rs76722120 0.00711
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=) rs142744007 0.00709
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_031220.4(PITPNM3):c.699C>T (p.Val233=) rs149964592 0.00707
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_198576.4(AGRN):c.1603+19G>A rs115191992 0.00697
NM_173551.5(ANKS6):c.862+20G>A rs115965425 0.00695
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=) rs35592908 0.00689
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_000483.5(APOC2):c.-2C>T rs5121 0.00686
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_017570.5(OPLAH):c.3720+8C>T rs374770909 0.00674
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_000789.4(ACE):c.2382G>A (p.Ala794=) rs61738817 0.00669
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=) rs59636120 0.00667
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=) rs140843407 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile) rs4252303 0.00655
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00651
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461 0.00648
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) rs77617474 0.00638
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050 0.00636
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu) rs77113162 0.00635
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_000789.4(ACE):c.231G>A (p.Ala77=) rs184457276 0.00629
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336 0.00623
NM_015166.4(MLC1):c.932T>A (p.Val311Glu) rs141225099 0.00622
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys) rs149207118 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_197947.3(CLEC7A):c.397C>T (p.Leu133=) rs144190589 0.00612
NM_004371.4(COPA):c.1076+13T>A rs149521115 0.00611
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=) rs59297244 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599 0.00607
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_001289104.2(PRKCSH):c.351-5C>T rs76485217 0.00604
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_014855.3(AP5Z1):c.791-5C>T rs73671921 0.00595
NM_025129.5(FUZ):c.405C>T (p.Ile135=) rs35499921 0.00594
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737 0.00590
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=) rs8178249 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_001013703.4(EIF2AK4):c.1660+12A>T rs55851223 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_004483.5(GCSH):c.292+9T>G rs8177909 0.00574
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_006785.4(MALT1):c.1223-20_1223-17del rs558928879 0.00553
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_020686.6(ABAT):c.954+16C>T rs41311266 0.00550
NM_003764.4(STX11):c.799G>A (p.Val267Met) rs45574234 0.00545
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00542
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00539
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=) rs147990356 0.00536
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_182914.3(SYNE2):c.888+17A>G rs141247973 0.00534
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_173551.5(ANKS6):c.1854C>T (p.Leu618=) rs150228036 0.00527
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033 0.00526
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_000379.4(XDH):c.3405-15T>C rs141728694 0.00516
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=) rs61382101 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_033124.5(CCDC65):c.1134G>A (p.Gly378=) rs116473422 0.00510
NM_000216.4(ANOS1):c.255+4C>T rs141696314 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_152263.4(TPM3):c.566+18C>G rs111368844 0.00505
NM_000744.7(CHRNA4):c.76+18G>T rs199908363 0.00504
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935 0.00494
NM_000789.4(ACE):c.1038G>C (p.Ser346=) rs34680431 0.00493
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_198241.3(EIF4G1):c.4510C>T (p.Leu1504=) rs74627110 0.00490
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His) rs61733583 0.00485
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001349253.2(SCN11A):c.4230G>A (p.Thr1410=) rs78953918 0.00480
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_002150.3(HPD):c.414G>A (p.Thr138=) rs140788110 0.00479
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_182914.3(SYNE2):c.2803T>C (p.Leu935=) rs114718315 0.00474
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_012120.3(CD2AP):c.42T>C (p.His14=) rs34773184 0.00472
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_012120.3(CD2AP):c.1035T>A (p.Ala345=) rs34023453 0.00471
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=) rs60615103 0.00469
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_000126.4(ETFA):c.351+17T>C rs138629105 0.00467
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_080424.4(SP110):c.1647C>T (p.Cys549=) rs116626378 0.00462
NM_005027.4(PIK3R2):c.1560-17C>T rs183117011 0.00461
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_020751.3(COG6):c.153+19G>A rs45508796 0.00460
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000789.4(ACE):c.2979C>T (p.Ile993=) rs75067113 0.00452
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr) rs114601558 0.00448
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_002386.4(MC1R):c.466G>C (p.Val156Leu) rs3212365 0.00443
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00441
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_032387.5(WNK4):c.945C>T (p.Gly315=) rs61754348 0.00439
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=) rs59696308 0.00434
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_001277115.2(DNAH11):c.6041+18T>C rs72657336 0.00425
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00417
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_002076.4(GNS):c.792+16A>G rs148924072 0.00415
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001572.5(IRF7):c.660G>A (p.Leu220=) rs76107421 0.00414
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00414
NM_006904.7(PRKDC):c.1911A>G (p.Lys637=) rs45438803 0.00412
NM_015599.3(PGM3):c.33A>G (p.Ala11=) rs150763574 0.00411
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105 0.00411
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262 0.00410
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_002246.3(KCNK3):c.654G>T (p.Pro218=) rs34292597 0.00407
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=) rs2230530 0.00405
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) rs190995850 0.00402
NM_032790.4(ORAI1):c.132A>G (p.Pro44=) rs554617167 0.00402
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) rs55761650 0.00401
NM_002361.4(MAG):c.1716+18G>C rs10419210 0.00401
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_182914.3(SYNE2):c.16420T>A (p.Ser5474Thr) rs114483901 0.00399
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala) rs115316501 0.00398
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000049.4(ASPA):c.245T>C (p.Met82Thr) rs80099330 0.00394
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_000081.4(LYST):c.4863-19T>C rs150288597 0.00393
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001127222.2(CACNA1A):c.5067+20G>A rs184517632 0.00390
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=) rs549451772 0.00388
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=) rs114088252 0.00386
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_004525.3(LRP2):c.13620+14C>G rs142018904 0.00384
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_201384.3(PLEC):c.4044+16C>T rs182039608 0.00379
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) rs60275734 0.00378
NM_001957.4(EDNRA):c.1146A>G (p.Ser382=) rs141331809 0.00377
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_198252.3(GSN):c.664-4A>G rs143590302 0.00376
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) rs183012002 0.00375
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_144499.3(GNAT1):c.675C>T (p.Ala225=) rs4688684 0.00368
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 0.00367
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_000338.3(SLC12A1):c.1300+12G>A rs147511178 0.00364
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro) rs558084375 0.00362
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg) rs111929795 0.00359
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495 0.00357
NM_006612.6(KIF1C):c.183+17G>C rs113047933 0.00357
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_000531.6(OTC):c.-366A>G rs191615506 0.00354
NM_001289104.2(PRKCSH):c.469-10G>A rs188022793 0.00354
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_006929.5(SKIC2):c.2574G>A (p.Val858=) rs139281450 0.00350
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745 0.00348
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_003114.5(SPAG1):c.1584G>A (p.Ala528=) rs35252724 0.00346
NM_001366385.1(CARD14):c.1917C>T (p.Ala639=) rs79407194 0.00344
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_004281.4(BAG3):c.606G>T (p.Pro202=) rs74157690 0.00341
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) rs142149782 0.00334
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) rs148259739 0.00334
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138 0.00329
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326 0.00326
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_017570.5(OPLAH):c.471G>A (p.Thr157=) rs145079111 0.00324
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000789.4(ACE):c.1681C>T (p.Arg561Trp) rs4314 0.00316
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00316
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00315
NM_014270.5(SLC7A9):c.978-17G>A rs45628833 0.00315
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000875.5(IGF1R):c.225C>T (p.Phe75=) rs55770488 0.00312
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_019109.5(ALG1):c.539+16G>A rs189715949 0.00311
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_017947.4(MOCOS):c.1539A>G (p.Ala513=) rs76486529 0.00309
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865 0.00309
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_031844.3(HNRNPU):c.1743+8G>T rs75674611 0.00304
NM_000187.4(HGD):c.711C>A (p.Arg237=) rs147204182 0.00302
NM_198252.3(GSN):c.243C>T (p.Thr81=) rs116956127 0.00302
NM_002163.4(IRF8):c.602C>T (p.Ala201Val) rs144424711 0.00301
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) rs144615758 0.00298
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_000292.3(PHKA2):c.2806+13C>A rs186550641 0.00296
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_004525.3(LRP2):c.5538+10C>T rs115659204 0.00296
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_000133.4(F9):c.967G>A (p.Glu323Lys) rs150351950 0.00294
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_000540.3(RYR1):c.425-19A>G rs193169917 0.00289
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00286
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00282
NM_005631.5(SMO):c.621C>T (p.Tyr207=) rs56318556 0.00282
NM_201596.3(CACNB2):c.915T>C (p.Phe305=) rs149586418 0.00282
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838 0.00278
NM_004370.6(COL12A1):c.6068-14T>A rs189714891 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_033087.4(ALG2):c.349-17A>G rs193069827 0.00275
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000216.4(ANOS1):c.618G>A (p.Ser206=) rs147229253 0.00272
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00271
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_001105206.3(LAMA4):c.422+20G>T rs188820838 0.00271
NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met) rs146711260 0.00271
NM_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392 0.00268
NM_012120.3(CD2AP):c.447C>T (p.Thr149=) rs145518596 0.00268
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=) rs113782371 0.00267
NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg) rs144182297 0.00266
NM_213655.5(WNK1):c.2172T>C (p.Val724=) rs72649808 0.00266
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His) rs150857828 0.00265
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_173551.5(ANKS6):c.603C>T (p.His201=) rs137870160 0.00264
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00263
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_000733.4(CD3E):c.498G>A (p.Ala166=) rs78373007 0.00262
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00262
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_001374736.1(DST):c.14461A>C (p.Asn4821His) rs139089184 0.00260
NM_021098.3(CACNA1H):c.3846-10G>A rs377030217 0.00260
NM_014140.4(SMARCAL1):c.603G>C (p.Gly201=) rs35048226 0.00259
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001256545.2(MEGF10):c.218+17C>G rs72786483 0.00257
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_004431.5(EPHA2):c.2374C>A (p.Arg792=) rs55869078 0.00255
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_003355.3(UCP2):c.227G>A (p.Arg76Gln) rs45541732 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_198578.4(LRRK2):c.5510-9A>G rs41286460 0.00252
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) rs77367833 0.00251
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00249
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00247
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser) rs17849504 0.00244
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) rs115929614 0.00239
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_174936.4(PCSK9):c.1681+17G>A rs200529774 0.00238
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_005751.5(AKAP9):c.11098-13T>G rs76709221 0.00235
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) rs146976883 0.00233
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_001040151.2(SCN3B):c.582C>T (p.Asn194=) rs34964168 0.00232
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00232
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser) rs34873891 0.00230
NM_017866.6(TMEM70):c.211-6C>T rs113669789 0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=) rs142776952 0.00228
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_004525.3(LRP2):c.769+9G>A rs148452352 0.00225
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=) rs144388375 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_003661.4(APOL1):c.573C>T (p.Leu191=) rs150846072 0.00220
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr) rs141882615 0.00217
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_015512.5(DNAH1):c.7143C>G (p.Ile2381Met) rs144580984 0.00215
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_018979.4(WNK1):c.3489+17A>G rs185323017 0.00213
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_005045.4(RELN):c.1442-8T>C rs181761096 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=) rs144421639 0.00210
NM_002150.3(HPD):c.813C>T (p.Thr271=) rs144416002 0.00209
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_020041.3(SLC2A9):c.150+9G>A rs138627925 0.00209
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001394062.1(MACF1):c.3924G>A (p.Ser1308=) rs150560748 0.00205
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=) rs145911280 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_000153.4(GALC):c.195+19G>A rs189853941 0.00198
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_004168.4(SDHA):c.1551+16C>T rs184954254 0.00198
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_006929.5(SKIC2):c.2211G>A (p.Pro737=) rs2280773 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_000940.3(PON3):c.94C>T (p.Arg32Ter) rs147006695 0.00195
NM_001371623.1(TCOF1):c.4346-17T>A rs76350524 0.00195
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=) rs73608455 0.00194
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_144687.4(NLRP12):c.819T>C (p.Pro273=) rs59749540 0.00191
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00190
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
NM_139125.4(MASP1):c.893-14T>G rs188032187 0.00190
NM_004130.4(GYG1):c.609G>A (p.Val203=) rs75445811 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_022762.5(RMND5B):c.*1820A>G rs201653595 0.00188
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_001395656.1(ROBO2):c.1956T>C (p.Thr652=) rs61731263 0.00179
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00178
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_014244.5(ADAMTS2):c.689-18G>A rs202114393 0.00177
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00175
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=) rs370950694 0.00174
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=) rs72650721 0.00173
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_052874.5(STX1B):c.609G>A (p.Lys203=) rs61733980 0.00173
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=) rs57181695 0.00171
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233 0.00171
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00170
NM_022489.4(INF2):c.2490-20C>T rs187104422 0.00170
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met) rs142438011 0.00168
NM_001366385.1(CARD14):c.526G>C (p.Asp176His) rs144475004 0.00168
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_213655.5(WNK1):c.2659T>C (p.Leu887=) rs72649855 0.00167
NM_000110.4(DPYD):c.1525-11G>A rs55699321 0.00166
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr) rs147216443 0.00166
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_000194.3(HPRT1):c.384+19A>G rs183698879 0.00164
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) rs12549018 0.00164
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179 0.00163
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_002168.4(IDH2):c.782G>A (p.Arg261His) rs118101777 0.00163
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=) rs76875207 0.00160
NM_022098.4(XPNPEP3):c.1056-9C>T rs116758113 0.00160
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile) rs150395260 0.00159
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys) rs184868814 0.00159
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00158
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_017570.5(OPLAH):c.949+12G>A rs142819774 0.00156
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_003480.4(MFAP5):c.410-18G>A rs151240610 0.00155
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) rs146115458 0.00154
NM_001004127.3(ALG11):c.44+20G>T rs200503510 0.00153
NM_001077415.3(CRELD1):c.258-13C>A rs117956843 0.00153
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=) rs200895343 0.00153
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys) rs148422103 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_000789.4(ACE):c.3801C>T (p.Ile1267=) rs144242912 0.00150
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892 0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) rs72552033 0.00150
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219 0.00150
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 0.00144
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460 0.00144
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000789.4(ACE):c.945+16A>G rs201274031 0.00142
NM_017570.5(OPLAH):c.2964C>T (p.Asp988=) rs186192116 0.00142
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00139
NM_173551.5(ANKS6):c.615C>T (p.Ala205=) rs145249233 0.00139
NM_002529.4(NTRK1):c.287+12G>A rs202238126 0.00138
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000384.3(APOB):c.11788+16C>T rs139704306 0.00136
NM_015662.3(IFT172):c.4755+9G>C rs375261962 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001127217.3(SMAD9):c.1004-8G>A rs146507864 0.00131
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_000789.4(ACE):c.3489C>T (p.Ala1163=) rs4979 0.00130
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00128
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_001289104.2(PRKCSH):c.807C>T (p.Tyr269=) rs201337319 0.00125
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_032409.3(PINK1):c.387+20A>G rs368222506 0.00122
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_017570.5(OPLAH):c.2346G>T (p.Leu782=) rs370115329 0.00121
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) rs148545588 0.00119
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=) rs117964326 0.00118
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) rs59310656 0.00117
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_018979.4(WNK1):c.5284C>T (p.Leu1762=) rs72650741 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_014946.4(SPAST):c.415+12G>A rs539075273 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593 0.00113
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=) rs74983687 0.00113
NM_173551.5(ANKS6):c.1008G>A (p.Thr336=) rs373872443 0.00113
NM_004366.6(CLCN2):c.616-19C>T rs189868847 0.00112
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_003227.4(TFR2):c.2137-5C>T rs374964799 0.00111
NM_004366.6(CLCN2):c.1086-17G>A rs200509841 0.00111
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) rs184454068 0.00110
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=) rs137985903 0.00110
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_004366.6(CLCN2):c.1128G>A (p.Thr376=) rs149773402 0.00109
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=) rs200743968 0.00109
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857 0.00108
NM_018979.4(WNK1):c.1154-16G>A rs72648630 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00107
NM_173353.4(TPH2):c.616C>T (p.Pro206Ser) rs17110563 0.00107
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser) rs201238766 0.00105
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=) rs17173144 0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000278.5(PAX2):c.213-8C>T rs369615430 0.00101
NM_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_001395656.1(ROBO2):c.462C>T (p.Cys154=) rs200353960 0.00099
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_017570.5(OPLAH):c.2097-8C>T rs376189869 0.00099
NM_000215.4(JAK3):c.1131C>T (p.His377=) rs55802448 0.00098
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_001957.4(EDNRA):c.24A>G (p.Ala8=) rs146092355 0.00096
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp) rs559805054 0.00096
NM_020041.3(SLC2A9):c.249+11G>T rs377565288 0.00096
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 0.00095
NM_000379.4(XDH):c.636T>C (p.Phe212=) rs140225517 0.00095
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760 0.00095
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00093
NM_001737.5(C9):c.974C>T (p.Ala325Val) rs147068084 0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_018076.5(ODAD2):c.1534-19C>G rs375614529 0.00093
NM_018206.6(VPS35):c.834T>C (p.Thr278=) rs148572750 0.00093
NM_019109.5(ALG1):c.21C>T (p.Val7=) rs149388535 0.00093
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00091
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551 0.00091
NM_000278.5(PAX2):c.819G>C (p.Leu273=) rs144433354 0.00090
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=) rs199880128 0.00090
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_001148.6(ANK2):c.1863C>G (p.Ser621=) rs146425138 0.00089
NM_001395656.1(ROBO2):c.471C>T (p.Pro157=) rs201406456 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_000540.3(RYR1):c.14130-9T>G rs191894192 0.00088
NM_001394062.1(MACF1):c.13145A>G (p.Asn4382Ser) rs148069432 0.00088
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_020041.3(SLC2A9):c.1299C>T (p.Ile433=) rs147534794 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_020041.3(SLC2A9):c.681+13C>T rs202000076 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_001366110.1(PAX4):c.69T>C (p.Pro23=) rs116124047 0.00085
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915 0.00085
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_003907.3(EIF2B5):c.1870-5C>A rs144864475 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp) rs200711686 0.00084
NM_001382567.1(STIM1):c.387A>G (p.Val129=) rs116855870 0.00083
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00083
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) rs201959200 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_001366110.1(PAX4):c.144+16C>T rs138902071 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_005751.5(AKAP9):c.6508-20A>T rs374874284 0.00079
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=) rs139969239 0.00077
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_173551.5(ANKS6):c.1782C>T (p.Ala594=) rs78732864 0.00077
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_015662.3(IFT172):c.5161-20G>A rs372154058 0.00076
NM_017947.4(MOCOS):c.1908G>A (p.Leu636=) rs147207715 0.00076
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00075
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala) rs145887263 0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr) rs148467625 0.00074
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00074
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) rs182345541 0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001378964.1(CDON):c.350-11A>G rs199981607 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=) rs200542719 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_012120.3(CD2AP):c.1530+20G>A rs185360746 0.00071
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_020822.3(KCNT1):c.3503-18C>T rs373901872 0.00068
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn) rs141340479 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_001015880.2(PAPSS2):c.267C>T (p.Leu89=) rs144784084 0.00066
NM_001289104.2(PRKCSH):c.1092G>A (p.Pro364=) rs142347308 0.00066
NM_003661.4(APOL1):c.1116G>A (p.Lys372=) rs201657348 0.00066
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser) rs192913494 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_022098.4(XPNPEP3):c.970-9T>C rs117568682 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) rs57468015 0.00065
NM_000216.4(ANOS1):c.264G>A (p.Glu88=) rs41304727 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579 0.00063
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_001127217.3(SMAD9):c.828C>T (p.Val276=) rs142675092 0.00063
NM_001395656.1(ROBO2):c.4323C>T (p.Thr1441=) rs201527229 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_182919.4(TICAM1):c.557C>T (p.Ser186Leu) rs146550489 0.00063
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=) rs142344079 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003332.4(TYROBP):c.68G>A (p.Arg23His) rs79272253 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_014956.5(CEP164):c.2362-15C>T rs201819583 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_032387.5(WNK4):c.2207G>A (p.Arg736Gln) rs149389156 0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061