ClinVar Miner

Variants from GeneDx with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
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
237589 69620 151 29935 19370 336 3974 49672

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
GeneDx pathogenic likely pathogenic uncertain significance likely benign benign affects association confers sensitivity drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor uncertain risk allele other
pathogenic 0 2425 717 29 32 1 3 0 31 1 1 5 2 34 0 34
likely pathogenic 2019 0 1603 44 13 0 0 0 5 0 0 0 2 3 0 1
uncertain significance 591 973 67 6966 1232 1 2 0 9 0 0 0 0 11 0 10
likely benign 34 76 9450 6 10990 0 1 0 27 0 0 0 1 8 0 23
benign 54 44 2302 14515 78 6 19 1 37 1 3 0 10 63 1 30
risk factor 3 1 3 1 2 0 0 0 0 1 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 337
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 32198 4 7044 4437 9 1147 12639
PreventionGenetics, part of Exact Sciences 0 25222 0 5830 2214 3 273 8317
CeGaT Center for Human Genetics Tuebingen 0 12774 0 5005 2096 1 390 7490
Eurofins Ntd Llc (ga) 0 11146 0 2067 4447 57 374 6942
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 10320 0 2892 1776 2 360 5030
Genetic Services Laboratory, University of Chicago 0 5176 0 3664 1145 4 78 4891
Ambry Genetics 0 12286 0 2221 2123 0 286 4625
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 9077 0 1673 1426 3 173 3273
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 5789 0 2235 506 1 62 2803
Athena Diagnostics Inc 0 6607 0 1668 671 0 134 2471
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 6849 0 1440 596 1 89 2126
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1443 0 1869 162 2 16 2048
Revvity Omics, Revvity 0 4143 0 359 1463 0 196 2018
Quest Diagnostics Nichols Institute San Juan Capistrano 0 5727 0 1051 804 1 82 1936
Illumina Laboratory Services, Illumina 0 1705 0 958 840 0 91 1873
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 3430 0 1568 188 1 29 1786
Clinical Genetics, Academic Medical Center 0 5365 0 1421 262 1 34 1718
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 5866 0 1200 238 1 66 1505
Mayo Clinic Laboratories, Mayo Clinic 0 3733 0 531 725 0 125 1379
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 3351 0 1119 165 0 45 1329
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1134 0 851 203 2 36 1092
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2085 0 655 268 1 25 949
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 712 135 130 373 1 7 646
Department of Pathology and Laboratory Medicine, Sinai Health System 0 859 0 187 355 2 93 636
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1820 0 519 96 1 17 633
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 887 0 339 154 0 10 503
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 775 0 112 244 1 28 385
OMIM 0 291 0 45 23 191 81 335
Color Diagnostics, LLC DBA Color Health 0 832 0 199 74 0 33 306
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 403 0 115 113 0 47 275
Mendelics 0 273 0 46 130 2 32 210
Fulgent Genetics, Fulgent Genetics 0 972 0 143 26 0 13 182
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 464 0 140 27 0 5 172
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 241 0 74 83 0 13 170
AiLife Diagnostics, AiLife Diagnostics 0 509 0 89 16 1 63 169
All of Us Research Program, National Institutes of Health 0 601 0 78 30 0 60 168
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 744 0 126 0 0 31 157
Leiden Open Variation Database 0 132 0 80 60 0 15 155
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 315 0 96 31 1 7 135
Blueprint Genetics 0 376 0 59 36 0 30 125
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 24 0 17 11 0 89 117
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 186 0 47 28 0 21 95
Clinical Genetics and Genomics, Karolinska University Hospital 0 303 0 68 4 0 13 85
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 253 0 22 24 1 31 78
Gharavi Laboratory, Columbia University 0 133 0 23 17 0 22 62
CSER _CC_NCGL, University of Washington 0 59 0 10 36 0 14 60
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 109 0 14 38 0 7 58
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 10 0 26 4 0 27 56
NIHR Bioresource Rare Diseases, University of Cambridge 0 32 0 36 3 1 15 54
PharmGKB 0 0 0 0 0 52 0 52
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 149 0 28 12 0 11 51
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 91 0 22 9 2 14 47
Baylor Genetics 0 163 0 33 0 0 11 43
Natera, Inc. 0 275 0 22 18 0 2 42
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 54 1 10 17 0 13 41
RettBASE 0 81 0 34 5 0 0 39
Institute of Human Genetics, University Hospital Muenster 0 90 0 22 8 0 9 39
Department of Ophthalmology and Visual Sciences Kyoto University 0 3 1 30 3 0 2 36
University of Washington Center for Mendelian Genomics, University of Washington 0 9 0 22 0 0 14 35
Kariminejad - Najmabadi Pathology & Genetics Center 0 114 0 28 0 0 6 34
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 33 0 26 7 0 0 33
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 128 0 25 1 0 8 32
New York Genome Center 0 68 0 6 24 0 4 32
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 50 0 4 19 0 7 30
Genome-Nilou Lab 0 235 0 29 1 0 0 30
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 47 0 12 8 0 10 30
GeneDx 356732 122 0 12 13 0 3 27
Yale Center for Mendelian Genomics, Yale University 0 15 0 19 0 0 7 26
King Laboratory, University of Washington 0 4 0 7 16 0 2 25
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 27 0 6 9 0 9 24
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 14 0 4 2 0 17 23
Undiagnosed Diseases Network, NIH 0 15 0 11 1 0 12 22
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 7 0 7 1 0 13 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 31 0 4 15 0 0 19
Bruce Budowle Laboratory, University of North Texas Health Science Center 0 0 0 0 0 19 0 19
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 10 0 15 2 1 2 18
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 54 0 10 1 0 6 17
Department of Vascular Biology, Beijing Anzhen Hospital 0 12 0 10 3 0 4 17
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 6 0 5 10 2 0 17
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 28 0 7 4 1 3 15
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 50 0 9 0 0 6 15
Diagnostic Laboratory, Strasbourg University Hospital 0 16 0 6 2 0 7 15
Molecular Genetics laboratory, Necker Hospital 0 32 0 13 0 0 2 15
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 25 0 11 0 0 4 15
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 12 0 6 3 0 5 14
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 35 0 6 7 0 1 14
Institute of Human Genetics, University of Leipzig Medical Center 0 22 0 7 2 0 5 14
Department of Pathology and Molecular Medicine, Queen's University 0 20 0 3 10 0 1 14
Inherited Neuropathy Consortium 0 7 0 4 8 0 2 14
Medical Genetics Summaries 0 0 0 0 0 14 0 14
Database of Curated Mutations (DoCM) 0 2 0 13 0 0 0 13
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 32 0 11 1 0 1 13
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 40 0 9 4 0 0 13
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 12 0 7 4 0 3 13
CFTR-France 0 1 0 2 0 0 11 13
Center for Personalized Medicine, Children's Hospital Los Angeles 0 41 0 9 2 0 1 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 30 0 6 2 0 5 12
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 24 0 5 3 0 4 12
CZECANCA consortium 0 84 0 8 0 0 3 11
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 27 0 3 1 0 6 10
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 4 1 3 0 2 10
Service de Génétique Moléculaire, Hôpital Robert Debré 0 12 0 7 1 0 2 10
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 1 0 0 0 0 10 10
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1115 0 9 0 0 1 10
Laboratoire Génétique Moléculaire, CHRU TOURS 0 10 0 9 0 0 1 10
DASA 0 47 0 6 0 0 4 10
Laan Lab, Human Genetics Research Group, University of Tartu 0 9 0 4 0 0 6 10
Counsyl 0 19 0 8 1 0 0 9
GeneKor MSA 0 84 0 9 0 0 0 9
Klaassen Lab, Charite University Medicine Berlin 0 6 0 3 1 0 5 9
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 5 2 2 9
GenMed Metabolism Lab 0 13 0 6 0 0 2 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 13 0 5 0 0 3 8
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 8 0 8
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 24 0 5 1 0 3 8
3DMed Clinical Laboratory Inc 0 14 0 0 8 0 0 8
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 14 0 3 1 0 4 8
Claritas Genomics 0 30 0 3 4 0 0 7
Center for Genetic Medicine Research, Children's National Medical Center 0 7 0 0 5 0 2 7
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 11 0 0 4 0 3 7
Laboratory of Molecular Genetics, CHU RENNES 0 4 0 6 0 0 1 7
Molecular Genetics, Royal Melbourne Hospital 0 7 0 2 3 0 2 7
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 5 0 0 2 6
Phosphorus, Inc. 0 22 0 5 1 0 0 6
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 7 0 1 1 0 6 6
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 2 0 2 1 0 3 6
Ocular Genomics Institute, Massachusetts Eye and Ear 0 4 0 0 0 0 6 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 19 0 2 3 0 1 6
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 8 0 6 0 0 0 6
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 5 0 0 0 0 5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 11 0 4 1 0 0 5
Clinical Genetics, Erasmus University Medical Center 0 1 0 0 4 0 1 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 3 0 1 4 0 0 5
Neurogenetics Laboratory - MEYER, AOU Meyer 0 10 0 4 0 0 2 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 3 0 2 0 0 3 5
Johns Hopkins Genomics, Johns Hopkins University 0 8 0 3 2 0 0 5
University of Washington Department of Laboratory Medicine, University of Washington 0 18 0 0 4 0 1 5
Constitutional Genetics Lab, Leon Berard Cancer Center 0 41 0 2 1 0 2 5
Faculty of Health Sciences, Beirut Arab University 0 12 0 2 0 0 3 5
Paris Brain Institute, Inserm - ICM 0 1 0 1 3 0 1 5
Phenosystems SA 0 1 0 0 1 0 4 5
Genomics England Pilot Project, Genomics England 0 0 0 4 0 0 1 5
Eye Genetics Research Group, Children's Medical Research Institute 0 3 0 3 1 0 0 4
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 1 0 3 1 0 0 4
Clinical Pharmacogenetics Implementation Consortium 0 0 0 0 0 4 0 4
Embryology Laboratory, Victor Chang Cardiac Research Institute 0 2 0 4 0 0 0 4
Wendy Chung Laboratory, Columbia University Medical Center 0 1 0 2 2 0 0 4
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 3 0 1 0 0 3 4
Robert's Program, Boston Children's Hospital 0 15 0 1 0 0 3 4
Human Genetics Bochum, Ruhr University Bochum 0 8 0 3 1 0 0 4
Elsea Laboratory, Baylor College of Medicine 0 1 0 1 0 0 3 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 12 0 2 0 0 1 3
Bristol Genetics Laboratory, North Bristol NHS Trust 0 0 0 3 0 0 0 3
Sema4, Sema4 0 4 0 3 0 0 0 3
SNPedia 0 30 0 3 0 0 0 3
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University 0 0 0 0 0 0 3 3
Department of Prosthodontics, Peking University School and Hospital of Stomatology 0 1 0 0 0 0 3 3
Molecular Genetics and Enzymology, National Research Centre 0 0 0 0 2 0 1 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 15 0 2 0 0 1 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 8 0 0 1 1 1 3
ISCA site 1 0 2 0 0 0 0 3 3
Chan Lab, Boston Children's Hospital 0 0 0 1 0 0 2 3
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 1 0 0 2 3
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 1 0 0 2 0 1 3
Centre of Medical Genetics, University of Antwerp 0 0 0 3 0 0 0 3
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 10 0 0 2 0 1 3
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 3 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 0 2 0 3 0 0 0 3
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 3 0 1 0 0 2 3
Lab. Molecular Oncology, VUB, Free University of Brussels 0 2 0 1 2 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 6 0 2 0 0 1 3
Institute of Reproductive Genetics, University of Münster 0 3 0 2 0 0 1 3
Women's and Children's Health, University of Otago 0 1 0 0 0 0 3 3
Genesis Genome Database 0 1 0 0 2 0 1 3
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 0 1 1 0 1 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 6 0 0 1 0 2 3
Department of Genetics, CHU d'Angers 0 0 0 0 0 0 3 3
H3Africa Consortium 0 10 0 1 2 0 0 3
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 1 0 2 1 0 0 3
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University 0 0 0 0 0 0 3 3
MGZ Medical Genetics Center 0 7 0 1 1 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 5 0 1 0 0 1 2
TilsonLab, Columbia University 0 0 0 0 0 0 2 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 5 0 0 1 0 1 2
Care4Rare-SOLVE, CHEO 0 5 0 0 0 0 2 2
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 1 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 6 0 0 1 1 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 3 0 0 2 0 0 2
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 2 0 2 0 0 0 2
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 2 0 2
Department of Ophthalmology, Flinders University 0 0 0 1 0 0 1 2
Institute of Human Genetics, University of Wuerzburg 0 5 0 0 1 0 1 2
Daryl Scott Lab, Baylor College of Medicine 0 10 0 2 0 0 1 2
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 1 0 1 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 2 1 0 1 2
Snyder Lab, Genetics Department, Stanford University 0 0 0 2 0 0 0 2
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 0 4 0 1 0 0 1 2
True Health Diagnostics 0 0 0 2 0 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 15 0 1 0 0 1 2
ClinGen RASopathy Variant Curation Expert Panel 0 5 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 7 0 0 0 0 2 2
Codex Genetics Limited 0 0 0 0 0 0 2 2
Rare Disease Group, University of Exeter 0 0 0 1 0 0 2 2
3billion 0 2 0 2 0 0 0 2
Wainwright Lab, University Of Queensland 0 0 0 1 0 0 1 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 1 1 0 0 2
Houlden Lab, UCL Institute of Neurology 0 0 0 1 0 0 1 2
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz 0 2 0 0 0 0 2 2
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine 0 2 0 1 0 0 1 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 6 0 2 0 0 0 2
Rare Disease Center, Seoul National University Hospital 0 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 1 0 0 1
Department of Medical Genetics - Wuyts Lab, Antwerp University Hospital 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory, Health Services Laboratory 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 0 2 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 1 0 0 1
FirmaLab, FirmaLab 0 0 0 0 0 0 1 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 0 0 0 0 0 0 1 1
GeneReviews 0 19 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 2 1 0 0 0 0 1
UniProtKB/Swiss-Prot 0 85 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 8 0 0 0 0 1 1
Elahi Laboratory, University of Tehran 0 0 0 0 0 0 1 1
Department of Genetics, Robert DEBRE University Hospital 0 5 0 1 0 0 0 1
ISCA site 4 0 3 0 1 0 0 1 1
ISCA site 15 0 1 0 0 1 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 0 0 0 1 0 0 1
Sydney Children's Hospital, SCHN 0 4 0 0 0 0 1 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 1 0 0 1
Bone Marrow Failure laboratory, Queen Mary University London 0 2 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 0 0 1 0 0 0 1
Kruer lab, Phoenix Children's Hospital 0 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 0 0 0 1 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 2 0 0 0 0 1 1
Aziz Sancar Institute of Experimental Medicine, Istanbul University 0 0 0 0 0 1 0 1
Center for Human Genetics, University of Leuven 0 4 0 0 0 0 1 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 0 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 9 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 1 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 1 0 0 0 1
Department of Orthopeadics and Traumatology, Nanfang Hospital 0 0 0 0 0 1 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 0 0 0 1 1
Center of Medical Genetics and Primary Health Care 0 5 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 5 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 3 0 0 1 0 0 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 1 1
Barrett Group, Wellcome Trust Sanger Institute 0 0 0 1 0 0 0 1
Flegel Lab, National Institutes of Health 0 0 0 1 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 1 0 1 0 0 1 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1 1
Molecular Medicine, University of Leeds 0 3 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 0 0 0 1 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 0 0 1 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 0 0 0 0 0 1 1
Carola Vinuesa Lab, John Curtin School of Medical Research 0 0 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 1 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 1 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 1 1 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 9 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 6 0 1 0 0 0 1
Institute of Clinical Molecular Biology, Kiel University 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 0 7 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 1 1
deCODE genetics, Amgen 0 1 0 1 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 0 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1
Bioinformatics Institute, Agency for Science, Technology and Research 0 0 0 0 0 1 0 1
Reproductive Health Research and Development, BGI Genomics 0 2 0 0 1 0 0 1
Laboratory of Clinical and Experimental Pathology, Xuzhou Medical University 0 0 0 0 0 1 0 1
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 1 0 0 1
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 0 1 0 0 0 0 1 1
Farrar Lab, Smurfit Institute of Genetics, Trinity College Dublin 0 0 0 1 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 1 0 0 0 0 1 1
Stankiewicz Research Laboratory, Baylor College of Medicine 0 0 0 1 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1 1
Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University 0 0 0 0 1 0 0 1
Autoinflammatory diseases unit, CHU de Montpellier 0 0 0 1 0 0 0 1
Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia 0 4 0 0 0 0 1 1
Xu Lab, Pediatric Cardiology, Xinhua Hospital, affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 0 0 0 1 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 3 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 0 2 0 1 0 0 0 1
Institute of Medical Sciences, Banaras Hindu University 0 0 0 0 0 1 0 1
Neuromuscular Department, Hannover Medical School 0 0 0 0 1 0 0 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 1 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 2 0 1 0 0 0 1
Population Bio, Inc. 0 0 0 0 0 1 0 1
MAGI's Lab - Research, MAGI Group 0 9 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 1 1
Roden Lab, Vanderbilt University Medical Center 0 0 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 2 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 0 0 0 0 1 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 0 1 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 2 0 1 0 0 1 1
Pediatric Department, Xiangya Hospital, Central South University 0 0 0 0 0 0 1 1
Biochemistry and Genetics Laboratory, University Hospital of Angers 0 1 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 0 0 0 0 0 1 1
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge 0 0 0 0 0 0 1 1
Francois Mercier Lab, McGill University 0 0 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 5 0 1 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 0 1 0 0 0 0 1 1
Bioinformatics & Molecular Biology Unit, Faculty of Science, Al-Azhar University 0 0 0 0 0 1 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 0 0 0 0 0 1 1
Eurofins-Biomnis 0 0 0 0 0 0 1 1
Department of Pediatrics, Penn State Hershey College of Medicine 0 0 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 1 1
Department of Endocrinology, The Fourth Affiliated Hospital of Guangzhou Medical University 0 0 0 0 0 1 0 1
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta 0 0 0 0 0 1 0 1
Otolaryngology Branch - NIDCD, NIH 0 0 0 0 0 0 1 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 1 0 0 1 1
Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology 0 0 0 0 0 1 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 1 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 1 0 0 0 1
Department of Medical Oncology, IRCCS Ospedale Policlinico San Martino 0 0 0 0 0 1 0 1
Center of Excellence in Clinical Pharmacokinetics and Pharmacogenomics, Faculty of Medicine, Chulalongkorn University 0 0 0 0 0 1 0 1
Rare Disease Genomics Group, St George's University of London 0 1 0 0 0 0 1 1
Department of Pharmacology - Sarajevo Medical School, University Sarajevo School of Science and Technology 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 49672
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_020451.2(SELENON):c.-42T>C rs12121707 0.99972
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99890
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_014832.5(TBC1D4):c.723G>C (p.Gly241=) rs7983969 0.99710
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_145649.5(GCNT2):c.926-34546C>G rs539351 0.99662
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_020921.4(NIN):c.933G>C (p.Leu311=) rs8020503 0.99252
NM_020921.4(NIN):c.5628+5T>C rs3015485 0.99236
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) rs6491088 0.99194
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98359
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_020549.5(CHAT):c.580-35G>A rs1880677 0.97479
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_001130438.3(SPTAN1):c.2560+43G>A rs4836615 0.96851
NM_001130438.3(SPTAN1):c.4905+41C>G rs7024498 0.96844
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA rs10665848 0.96433
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.95319
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883 0.93729
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_001130438.3(SPTAN1):c.6708-47G>A rs7866175 0.93246
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_022095.4(ZNF335):c.881G>C (p.Ser294Thr) rs6032606 0.89832
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696 0.89105
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87959
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997 0.87276
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=) rs2074641 0.86492
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=) rs7812015 0.86488
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526 0.86134
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) rs36527 0.86130
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_016511.4(CLEC1A):c.77G>C (p.Gly26Ala) rs2306894 0.85307
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_030667.3(PTPRO):c.1106-10T>A rs4764199 0.84939
NM_003283.6(TNNT1):c.-20A>G rs9636153 0.84878
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84751
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.84205
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064 0.83235
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_016553.5(NUP62):c.648C>T (p.Ser216=) rs999583 0.81792
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_020975.6(RET):c.73+9277T>C rs2435357 0.79636
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=) rs1376041 0.79529
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_018451.5(CENPJ):c.3478-49C>T rs1530876 0.78901
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_004836.7(EIF2AK3):c.439-170A>G rs7571971 0.77862
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.1922-41G>A rs1332663 0.77179
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_025114.4(CEP290):c.5227-43G>A rs2468245 0.76925
NM_017780.4(CHD7):c.2376+43_2376+48dup rs5891777 0.76905
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_016203.4(PRKAG2):c.864+35_864+36insA rs35348247 0.76395
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_001994.3(F13B):c.344G>A (p.Arg115His) rs6003 0.75658
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_152783.5(D2HGDH):c.292+28T>G rs62191977 0.74780
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile) rs1062087 0.74406
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_032119.4(ADGRV1):c.9907-35A>C rs7723259 0.72915
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_001130438.3(SPTAN1):c.2560+47C>T rs4837284 0.72327
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) rs25487 0.71503
NM_001130438.3(SPTAN1):c.6280-27C>T rs3737308 0.71407
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457 0.71354
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_001163809.2(WDR81):c.5451A>G (p.Thr1817=) rs11549259 0.69948
NM_025225.3(PNPLA3):c.1300A>G (p.Lys434Glu) rs2294918 0.69785
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_020227.4(PRDM9):c.2042C>G (p.Thr681Ser) rs6875787 0.69581
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_000057.4(BLM):c.3359-121_3359-120insA rs11377009 0.67736
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_000024.6(ADRB2):c.-47C>T rs1042711 0.67439
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001486.4(GCKR):c.1337T>C (p.Leu446Pro) rs1260326 0.67353
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.67221
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67099
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_032531.4(KIRREL3):c.1995C>T (p.Gly665=) rs948052 0.66811
NM_001184.4(ATR):c.5898+25T>G rs7620648 0.66679
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972 0.65760
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65693
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_024006.6(VKORC1):c.283+837T>C rs2359612 0.65429
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.63165
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.62345
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr) rs3761863 0.61824
NM_021922.3(FANCE):c.248+58A>C rs9470029 0.61786
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.61566
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_152783.5(D2HGDH):c.1307-24A>G rs6756901 0.61160
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_001365088.1(SLC12A6):c.1492+45C>T rs10851964 0.60740
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_005198.5(CHKB):c.333+10G>T rs86337 0.59693
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_032737.4(LMNB2):c.1416T>C (p.Gly472=) rs11084940 0.59479
NM_016816.4(OAS1):c.1039-1G>A rs10774671 0.59385
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_000078.3(CETP):c.1264G>A (p.Val422Ile) rs5882 0.58912
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_015080.4(NRXN2):c.531C>T (p.Gly177=) rs2518907 0.58725
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_006517.5(SLC16A2):c.1399+43T>G rs5937843 0.57946
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642 0.57896
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434 0.57798
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_000029.4(AGT):c.803T>C (p.Met268Thr) rs699 0.57702
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840 0.57695
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_006059.4(LAMC3):c.219T>G (p.His73Gln) rs3739512 0.56936
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_020921.4(NIN):c.5637G>A (p.Gln1879=) rs11376 0.56301
NM_032409.3(PINK1):c.*265G>T rs512550 0.56246
NM_000322.5(PRPH2):c.582-67T>A rs3818086 0.56178
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_003194.5(TBP):c.771T>C (p.Asn257=) rs1042327 0.55570
NM_001069.3(TUBB2A):c.564T>G (p.Ser188=) rs17849443 0.55272
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser) rs4536103 0.55018
NM_181486.4(TBX5):c.663+36G>T rs2236017 0.54802
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54408
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_199161.5(SAA1):c.209C>T (p.Ala70Val) rs1136743 0.54337
NM_000179.3(MSH6):c.3556+146G>A rs7562048 0.54192
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422 0.54012
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) rs6280 0.53929
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) rs831043 0.53755
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_032119.4(ADGRV1):c.10161+26G>T rs4916815 0.53367
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53241
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val) rs1136450 0.52928
NM_004822.3(NTN1):c.1018+5374C>T rs4791331 0.52844
NM_020921.4(NIN):c.1128T>C (p.Val376=) rs17793018 0.52775
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_000587.4(C7):c.1166G>C (p.Ser389Thr) rs1063499 0.51910
NM_198129.4(LAMA3):c.9211-21C>T rs2288592 0.51885
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181 0.51676
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.51303
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_000069.2(CACNA1S):c.-476G>A rs2281845 0.50680
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.50676
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=) rs831042 0.50520
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_015080.4(NRXN2):c.2745C>T (p.Ile915=) rs526338 0.49435
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_006059.4(LAMC3):c.1932C>T (p.Ser644=) rs12349966 0.48282
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_016816.4(OAS1):c.484G>A (p.Gly162Ser) rs1131454 0.47874
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_006059.4(LAMC3):c.1631A>G (p.Glu544Gly) rs10901333 0.47711
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn) rs4548513 0.47526
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_014832.5(TBC1D4):c.2901C>T (p.Leu967=) rs2297208 0.47333
NM_001379500.1(COL18A1):c.3694-33A>C rs56335679 0.47305
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000145.4(FSHR):c.919G>A (p.Ala307Thr) rs6165 0.47188
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_001374828.1(ARID1B):c.2248-35G>A rs3734440 0.46405
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_001365088.1(SLC12A6):c.271+41G>C rs347836 0.46169
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_001031709.3(RNLS):c.111G>C (p.Glu37Asp) rs2296545 0.45746
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_001379500.1(COL18A1):c.3694-32C>A rs55690336 0.45427
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.44938
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_000754.4(COMT):c.186C>T (p.His62=) rs4633 0.44697
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_002075.4(GNB3):c.825C>T (p.Ser275=) rs5443 0.44600
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_014832.5(TBC1D4):c.84C>G (p.Pro28=) rs7327548 0.44024
NM_001048166.1(STIL):c.2615+27A>G rs2742104 0.43900
NM_000254.3(MTR):c.2044-9C>T rs531027742 0.43868
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_003355.3(UCP2):c.164C>T (p.Ala55Val) rs660339 0.43008
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_033337.3(CAV3):c.*645A>T rs11476 0.42415
NM_004933.3(CDH15):c.1971A>G (p.Gln657=) rs3815615 0.42410
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_000106.6(CYP2D6):c.1457= (p.Ser486=) rs1135840 0.42305
NM_024809.5(TCTN2):c.765-43A>T rs7298831 0.42250
NM_000446.7(PON1):c.575A>G (p.Gln192Arg) rs662 0.42215
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_020975.5(RET):c.-196C>A rs10900297 0.41632
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.41290
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_006059.4(LAMC3):c.963C>T (p.Ala321=) rs2275131 0.40359
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136 0.40227
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_173630.4(RTTN):c.734A>G (p.Lys245Arg) rs17082206 0.40022
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_003072.5(SMARCA4):c.3168+31C>G rs2075021 0.39914
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_033337.3(CAV3):c.*811C>G rs10882 0.39333
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) rs60992377 0.39132
NM_004820.5(CYP7B1):c.122+19A>T rs7842714 0.39118
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_000754.4(COMT):c.289+90A>G rs2239393 0.39046
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38983
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) rs2229267 0.38704
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=) rs2227283 0.38493
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_053056.3(CCND1):c.723G>A (p.Pro241=) rs9344 0.38311
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=) rs2295580 0.38170
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_006059.4(LAMC3):c.4378-4A>G rs4740413 0.38051
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_001276254.2(IFNL4):c.151-152G>A rs12979860 0.37827
NM_001077415.3(CRELD1):c.1049-393C>T rs3774207 0.37804
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_000795.4(DRD2):c.957C>T (p.Pro319=) rs6277 0.37659
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu) rs551225 0.37615
NM_000230.3(LEP):c.-39G>A rs2167270 0.37538
NM_002666.5(PLIN1):c.1113T>C (p.Pro371=) rs2304795 0.37380
NM_201525.4(ADGRG1):c.1168-20C>A rs2305309 0.37206
NM_000231.3(SGCG):c.*295T>C rs3829352 0.37163
NM_024884.3(L2HGDH):c.1196+34C>T rs12432673 0.37158
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_024809.5(TCTN2):c.1235-28A>G rs12831081 0.36516
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_003244.4(TGIF1):c.16+1720del rs11571510 0.36186
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000446.6(PON1):c.-108C>T rs705379 0.36079
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_198060.4(NRAP):c.*7del rs3832698 0.35956
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_198253.3(TERT):c.1951-205G>A rs10069690 0.35840
NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro) rs1801197 0.35816
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_018368.4(LMBRD1):c.763-50T>C rs2305837 0.35224
NM_020921.4(NIN):c.2616C>A (p.Ala872=) rs2073349 0.35221
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_005554.4(KRT6A):c.495A>G (p.Glu165=) rs376545 0.34829
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_019076.5(UGT1A8):c.855+63319T>G rs7586110 0.34319
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34271
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33817
NM_003803.4(MYOM1):c.1146C>T (p.His382=) rs2230163 0.33709
NM_006059.4(LAMC3):c.3114C>G (p.Leu1038=) rs10901345 0.33677
NM_006059.4(LAMC3):c.3108G>A (p.Gly1036=) rs10901344 0.33663
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000236.2(LIPC):c.-293G>A rs2070895 0.33491
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.33289
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649 0.33080
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=) rs3735442 0.33029
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_004132.4(HABP2):c.-70T>C rs2240879 0.32584
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_001371928.1(AHDC1):c.100A>C (p.Thr34Pro) rs758473342 0.32198
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32165
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_014832.5(TBC1D4):c.2384-3C>T rs2297203 0.31705
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31560
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_145861.4(EDARADD):c.*1562T>C rs7513402 0.31448
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_032119.4(ADGRV1):c.5665-23T>C rs4916683 0.31255
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31157
NM_024006.6(VKORC1):c.174-136C>T rs9934438 0.31147
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_005881.4(BCKDK):c.615G>A (p.Thr205=) rs14235 0.30943
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_007294.4(BRCA1):c.4485-63C>G rs273900734 0.30900
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_033337.3(CAV3):c.*783A>G rs7629329 0.30735
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=) rs1965707 0.30680
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_018136.5(ASPM):c.8988-42G>A rs41304071 0.30406
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_004525.3(LRP2):c.639C>T (p.Asp213=) rs2229266 0.30270
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_004517.4(ILK):c.297C>T (p.His99=) rs1043388 0.29694
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_021956.5(GRIK2):c.2312-9C>T rs2227281 0.29507
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_004933.3(CDH15):c.264T>C (p.Asp88=) rs59865771 0.29473
NM_006059.4(LAMC3):c.521C>A (p.Pro174His) rs2275137 0.29468
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_001321142.2(CIDEC):c.96G>T (p.Leu32=) rs456168 0.29400
NM_003803.4(MYOM1):c.999G>A (p.Gly333=) rs2230162 0.29399
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_005105.5(RBM8A):c.67+93A>T rs872786 0.29287
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29256
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_000446.7(PON1):c.163T>A (p.Leu55Met) rs854560 0.29107
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_020921.4(NIN):c.3090A>T (p.Ser1030=) rs2073348 0.28854
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_006059.4(LAMC3):c.4298C>T (p.Thr1433Met) rs7024108 0.28739
NM_000069.3(CACNA1S):c.258+57G>A rs1325310 0.28632
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser) rs869457 0.28273
NM_032531.4(KIRREL3):c.346A>C (p.Arg116=) rs12269776 0.28200
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_006702.5(PNPLA6):c.-96A>C rs604959 0.27892
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_003803.4(MYOM1):c.1338C>T (p.Asn446=) rs2230167 0.27728
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_032409.3(PINK1):c.*672T>C rs2078073 0.27437
NM_032409.3(PINK1):c.*564T>G rs1043502 0.27404
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_032409.3(PINK1):c.*196T>C rs1043443 0.27336
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364 0.27302
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_000312.4(PROC):c.768T>C (p.Asp256=) rs5937 0.27234
NM_001163809.2(WDR81):c.2331A>G (p.Leu777=) rs7221974 0.27161
NM_004517.4(ILK):c.819G>A (p.Pro273=) rs1043390 0.27055
NM_152783.5(D2HGDH):c.490+40T>C rs78147778 0.27008
NM_006031.6(PCNT):c.9273+22T>C rs2051190 0.26843
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_001001331.4(ATP2B2):c.1437C>T (p.Asn479=) rs2289274 0.26684
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_001940.4(ATN1):c.2430C>A (p.Arg810=) rs7969685 0.26588
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.26133
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639 0.25945
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) rs10149146 0.25663
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_006031.6(PCNT):c.1207+34A>T rs35210219 0.25479
NM_001807.6(CEL):c.1710C>T (p.Pro570=) rs488087 0.25447
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_002666.5(PLIN1):c.1119C>T (p.Val373=) rs2304796 0.25348
NM_005656.4(TMPRSS2):c.478G>A (p.Val160Met) rs12329760 0.25326
NM_000322.5(PRPH2):c.582-85G>A rs34722725 0.25301
NM_017950.4(CCDC40):c.2832+313A>G rs7210679 0.25232
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) rs2228171 0.25207
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.25187
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.24762
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_001281740.3(FHOD3):c.3072A>C (p.Pro1024=) rs1021276233 0.24503
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=) rs13561 0.24486
NM_004360.4(CDH1):c.-124-161C>A rs16260 0.24474
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_021956.5(GRIK2):c.2085+10G>A rs2243355 0.24093
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_015087.5(SPART):c.1629A>G (p.Ala543=) rs2274293 0.23882
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23587
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001384474.1(LOXHD1):c.6183-11del rs143514947 0.23567
NM_173560.4(RFX6):c.1914T>C (p.Gly638=) rs611349 0.23550
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.23527
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_001135998.3(NDUFB11):c.207+9C>G rs782740072 0.23464
NM_173560.4(RFX6):c.1542T>C (p.Asn514=) rs7770158 0.23461
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_016529.6(ATP8A2):c.144A>C (p.Gly48=) rs7317185 0.23234
NM_198437.3(AURKA):c.91T>A (p.Phe31Ile) rs2273535 0.23195
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_173560.4(RFX6):c.1383T>C (p.Thr461=) rs7764347 0.23095
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001348946.2(ABCB1):c.287-25G>T rs2235015 0.23041
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_201384.3(PLEC):c.2740-45G>T rs11993782 0.22902
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_177438.3(DICER1):c.1907+105C>T rs2275182 0.22841
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_003194.5(TBP):c.228G>A (p.Gln76=) rs112083427 0.22669
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.22639
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=) rs10861607 0.22605
NM_000137.4(FAH):c.-178G>A rs56043846 0.22598
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22496
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_014832.5(TBC1D4):c.498+9G>A rs9573565 0.22396
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_000320.2(QDPR):c.-81delC rs67496406 0.22322
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_007262.4(PARK7):c.-137G>A rs17523802 0.22239
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529 0.22211
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_001130438.3(SPTAN1):c.5479-41A>C rs7864187 0.22153
NM_003690.5(PRKRA):c.685C>T (p.Leu229=) rs62176107 0.22118
NM_000322.5(PRPH2):c.829-48C>T rs41273820 0.22114
NM_005120.3(MED12):c.205-38C>T rs12850852 0.22082
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_001281740.3(FHOD3):c.3078A>C (p.Pro1026=) rs771717461 0.21966
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_000352.6(ABCC8):c.2292-34T>C rs1800852 0.21889
NM_213622.4(STAMBP):c.1218+12T>C rs1025424 0.21855
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21722
NM_032588.4(TRIM63):c.709A>G (p.Lys237Glu) rs2275950 0.21674
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_177438.3(DICER1):c.4206+11del rs58202892 0.21617
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) rs1050349 0.21500
NM_022041.4(GAN):c.1293C>T (p.Tyr431=) rs2608555 0.21491
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_003803.4(MYOM1):c.1392G>A (p.Arg464=) rs11659820 0.21420
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_001142800.2(EYS):c.2024-14_2024-13insT rs142590049 0.21040
NM_022095.4(ZNF335):c.1103-7G>A rs3746512 0.20987
NM_006059.4(LAMC3):c.4231-10C>T rs4740411 0.20977
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000685.5(AGTR1):c.*86A>C rs5186 0.20976
NM_000439.5(PCSK1):c.-101T>C rs6230 0.20956
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858 0.20726
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) rs1049564 0.20682
NM_006059.4(LAMC3):c.4376G>A (p.Arg1459Gln) rs4740412 0.20674
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_000937.5(POLR2A):c.5016G>A (p.Ser1672=) rs55931722 0.20661
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20608
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_006059.4(LAMC3):c.1218G>A (p.Thr406=) rs2293518 0.20549
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn) rs4915691 0.20494
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000769.1(CYP2C19):c.-806C>T rs12248560 0.20441
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713 0.20353
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
NM_000439.5(PCSK1):c.*265T>C rs3811942 0.20188
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045 0.20167
NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala) rs2236316 0.20068
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20037
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_017757.3(ZNF407):c.1248T>C (p.Pro416=) rs3794941 0.19620
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_178135.5(HSD17B13):c.812+2dup rs72613567 0.19453
NM_020921.4(NIN):c.1974T>C (p.His658=) rs4901055 0.19347
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_006086.4(TUBB3):c.58-49C>T rs28593634 0.19243
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=) rs2302694 0.19156
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_006086.4(TUBB3):c.58-22C>T rs2302897 0.19080
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser) rs3803403 0.19072
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) rs5982 0.18893
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_001003841.3(SLC6A19):c.754G>A (p.Val252Ile) rs7732589 0.18781
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_006031.6(PCNT):c.5994+38T>C rs73907502 0.18733
NM_006031.6(PCNT):c.5994+48T>G rs73379348 0.18721
CYP2D6*10 rs1065852 0.18675
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_000136.3(FANCC):c.250+220G>A rs356667 0.18637
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_006031.6(PCNT):c.7913+40C>T rs1023161 0.18569
NM_006031.6(PCNT):c.7494+48G>A rs55937012 0.18558
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638 0.18279
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239 0.18176
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273 0.17904
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=) rs12077111 0.17885
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=) rs11208644 0.17883
NM_000754.4(COMT):c.615+75G>C rs4646315 0.17853
NM_000125.4(ESR1):c.1782G>A (p.Thr594=) rs2228480 0.17850
NM_182961.4(SYNE1):c.2098-29C>T rs7775181 0.17810
NM_182961.4(SYNE1):c.2098-50G>A rs7776344 0.17809
NM_015080.4(NRXN2):c.242T>A (p.Leu81Gln) rs12273892 0.17763
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17747
NM_002381.4(MATN3):c.-76C>A rs188620236 0.17745
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln) rs4614906 0.17664
NM_145861.4(EDARADD):c.*1787C>T rs6428955 0.17627
NM_018344.5(SLC29A3):c.-63C>T rs72542481 0.17617
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met) rs2306899 0.17541
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17070
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly) rs1801252 0.17028
NM_018249.6(CDK5RAP2):c.1483-29T>G rs2490594 0.16966
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_001267550.2(TTN):c.8902+16del rs570467105 0.16737
NM_002156.5(HSPD1):c.69T>C (p.Thr23=) rs1050347 0.16721
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_002469.3(MYF6):c.*152C>A rs3120 0.16661
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.16614
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_022095.4(ZNF335):c.3522A>T (p.Pro1174=) rs16990951 0.16529
NM_004525.3(LRP2):c.5859A>G (p.Arg1953=) rs11886219 0.16510
NM_173630.4(RTTN):c.6144A>G (p.Val2048=) rs2304378 0.16509
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly) rs28494009 0.16504
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_000281.3(PCBD1):c.-46G>A rs827237 0.16408
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16150
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) rs4244285 0.16148
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) rs1799999 0.16138
NM_001365088.1(SLC12A6):c.2803-25T>C rs17817806 0.16133
NM_001379500.1(COL18A1):c.2620+29C>T rs73370840 0.16080
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525 0.16017
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_032119.4(ADGRV1):c.18433-16T>C rs72784680 0.15839
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_001163809.2(WDR81):c.1716C>T (p.His572=) rs80035274 0.15722
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_003690.5(PRKRA):c.-24G>A rs62176113 0.15636
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_012062.5(DNM1L):c.*271C>G rs1020670 0.15598
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NC_000019.10:g.39252525T>G rs8099917 0.15536
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.15471
NM_080473.5(GATA5):c.199A>C (p.Thr67Pro) rs6142775 0.15464
NM_001384732.1(CPLANE1):c.4080+27C>T rs78164677 0.15457
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_004525.3(LRP2):c.11601T>C (p.Cys3867=) rs2229268 0.15380
NM_000392.5(ABCC2):c.-24C>T rs717620 0.15338
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_004933.3(CDH15):c.1023G>A (p.Ser341=) rs72819366 0.15210
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_005120.3(MED12):c.5401-25C>T rs41298482 0.15124
NM_000231.3(SGCG):c.-88G>A rs4770403 0.15108
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_000361.3(THBD):c.1418C>T (p.Ala473Val) rs1042579 0.15009
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_021922.3(FANCE):c.856-70G>A rs9470033 0.14674
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_032409.3(PINK1):c.*415C>G rs8064 0.14517
NM_006059.4(LAMC3):c.3507C>T (p.Thr1169=) rs3818800 0.14515
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14386
NM_001365276.2(TNXB):c.11412T>C (p.Asp3804=) rs2894232 0.14383
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
CYP2D6*4 rs3892097 0.14340
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199 0.14228
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196 0.14152
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser) rs28661939 0.14124
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_001039591.3(USP9X):c.4234-18A>C rs781379769 0.14073
NM_000306.4(POU1F1):c.*139T>A rs4988463 0.14040
NM_181507.2(HPS5):c.824+34A>C rs7122032 0.14035
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001184.4(ATR):c.3726-47A>G rs73240314 0.13934
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_018648.3(NOP10):c.-95T>C rs2169480 0.13873
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser) rs12140311 0.13867
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_030928.4(CDT1):c.549A>G (p.Gly183=) rs1834065 0.13858
NM_000152.5(GAA):c.2331+24T>C rs2304831 0.13841
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn) rs77419724 0.13676
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys) rs2230926 0.13432
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr) rs7830743 0.13382
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_004113.6(FGF12):c.229-9T>C rs79176051 0.13309
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_001039523.2(CHRNA1):c.-478A>G rs16862847 0.13301
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=) rs2281582 0.13125
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_006031.6(PCNT):c.640-38T>G rs2839216 0.12924
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12851
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_006493.4(CLN5):c.*292G>A rs700363 0.12838
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_001159387.2(B4GALNT2):c.1216T>C (p.Cys406Arg) rs7224888 0.12829
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_001128164.2(ATXN1):c.474A>G (p.Ala158=) rs2072736 0.12678
NM_013382.7(POMT2):c.1786-39C>T rs438931 0.12674
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_002875.5(RAD51):c.-98G>C rs1801320 0.12401
NM_000466.3(PEX1):c.-137T>C rs12386601 0.12381
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.12317
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_003001.5(SDHC):c.77+32A>T rs77828459 0.12254
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=) rs13397109 0.12249
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
NM_001734.5(C1S):c.356G>A (p.Arg119His) rs12146727 0.12113
NM_001365276.2(TNXB):c.11531-36C>A rs71565305 0.12112
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_005619.5(RTN2):c.96T>C (p.Ser32=) rs10401270 0.12040
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=) rs12687163 0.12023
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_001368397.1(FRMPD4):c.1401C>G (p.Val467=) rs6641078 0.11823
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_006031.6(PCNT):c.3465-40C>T rs7279052 0.11767
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
NM_002547.3(OPHN1):c.702+29G>A rs3788859 0.11700
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.11690
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11683
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_017852.5(NLRP2):c.1566A>G (p.Glu522=) rs3745905 0.11595
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_000199.5(SGSH):c.89-45G>A rs9900509 0.11554
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_017757.3(ZNF407):c.1534G>A (p.Gly512Arg) rs7227263 0.11518
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_017757.3(ZNF407):c.1263C>T (p.Leu421=) rs17817969 0.11505
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_015080.4(NRXN2):c.3327C>T (p.Gly1109=) rs3825074 0.11290
NM_017668.3(NDE1):c.*899C>A rs79015533 0.11286
NM_000199.5(SGSH):c.89-39G>A rs9900502 0.11282
NM_173660.5(DOK7):c.-30G>T rs146168804 0.11265
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_001194998.2(CEP152):c.87+26A>G rs72739872 0.11222
NM_012301.4(MAGI2):c.2784T>C (p.Asn928=) rs1009524 0.11193
NM_030928.4(CDT1):c.243T>C (p.Ser81=) rs475667 0.11192
NM_138711.6(PPARG):c.1341C>T (p.His447=) rs3856806 0.11181
NM_004268.5(MED17):c.1092G>A (p.Pro364=) rs34057693 0.11178
NM_015166.4(MLC1):c.597A>G (p.Ser199=) rs6010164 0.11147
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_006446.5(SLCO1B1):c.411G>A (p.Ser137=) rs11045818 0.11112
NM_016495.6(TBC1D7):c.517T>C (p.Leu173=) rs482227 0.11098
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) rs8177374 0.10979
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015166.4(MLC1):c.978C>T (p.Cys326=) rs11568186 0.10918
NM_015166.4(MLC1):c.996T>C (p.Ser332=) rs11568187 0.10904
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_000748.3(CHRNB2):c.210+9A>G rs3926124 0.10829
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_001001331.4(ATP2B2):c.1551C>T (p.Gly517=) rs2289273 0.10735
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) rs11166965 0.10684
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_018249.6(CDK5RAP2):c.5578+48C>T rs10984902 0.10631
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_001184.4(ATR):c.1885+39T>C rs73240318 0.10546
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) rs11553876 0.10521
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199 0.10516
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_033337.3(CAV3):c.*543T>C rs13093809 0.10412
NM_139281.3(WDR36):c.1717-20T>A rs59359951 0.10369
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_006059.4(LAMC3):c.75C>T (p.Cys25=) rs13286358 0.10217
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp) rs4253527 0.10197
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001365276.2(TNXB):c.8791+35G>A rs11969759 0.10162
NM_001378615.1(CC2D2A):c.-19+37G>C rs6819598 0.10157
NM_002016.2(FLG):c.6190A>C (p.Lys2064Gln) rs74129455 0.10140
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_001365276.2(TNXB):c.7680C>T (p.Asp2560=) rs12196385 0.10128
NM_014795.4(ZEB2):c.917-21T>C rs35213774 0.10114
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu) rs2295847 0.10087
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10037
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.10004
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09973
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926 0.09970
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833 0.09968
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_015215.4(CAMTA1):c.981C>T (p.Asn327=) rs3737906 0.09941
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_033453.4(ITPA):c.124+21A>C rs7270101 0.09874
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635 0.09752
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys) rs41278952 0.09746
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_015426.5(POC1A):c.18+10G>A rs114209632 0.09677
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09661
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=) rs3746503 0.09613
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.09596
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163 0.09554
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_014249.4(NR2E3):c.119-28T>C rs2742318 0.09545
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_015409.5(EP400):c.8181A>G (p.Gln2727=) rs10902490 0.09491
NM_018648.4(NOP10):c.*149G>A rs7173 0.09458
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09422
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09405
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506 0.09394
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_001321142.2(CIDEC):c.33C>G (p.Leu11=) rs17851444 0.09372
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_003803.4(MYOM1):c.660T>C (p.Ser220=) rs2230166 0.09353
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_004483.5(GCSH):c.-4G>T rs779613867 0.09245
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_000080.4(CHRNE):c.1220-45C>T rs75492003 0.09239
NM_004525.3(LRP2):c.2376T>C (p.Asp792=) rs33954745 0.09210
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_006493.4(CLN5):c.*155C>T rs700365 0.09182
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_032444.4(SLX4):c.4739+24G>T rs12933120 0.09148
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_017852.5(NLRP2):c.585C>T (p.Phe195=) rs10403648 0.09127
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser) rs138675433 0.09012
NM_005592.4(MUSK):c.206+28A>T rs75001517 0.09001
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro) rs7630989 0.08988
CYP2C9*2 rs1799853 0.08975
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) rs61739560 0.08885
NM_001191061.2(SLC25A22):c.293+27G>A rs79478359 0.08883
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) rs57593250 0.08881
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) rs34457678 0.08878
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_001371623.1(TCOF1):c.3604-3C>T rs11743855 0.08821
NM_138711.6(PPARG):c.-8-28078C>G rs1801282 0.08816
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_006393.3(NEBL):c.2997A>G (p.Thr999=) rs2296614 0.08806
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_021922.3(FANCE):c.970-84T>C rs3800376 0.08678
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001368397.1(FRMPD4):c.2007T>C (p.Leu669=) rs67823099 0.08669
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_032444.4(SLX4):c.1366+11T>C rs76350200 0.08654
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) rs8187710 0.08637
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600