ClinVar Miner

Variants from Genome-Nilou Lab with conflicting interpretations

Location: Iran, Islamic Republic of  Primary collection method: clinical testing
Minimum review status of the submission from Genome-Nilou Lab: Collection method of the submission from Genome-Nilou Lab:
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
12807 15766 10 4105 2150 37 666 6483

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
Genome-Nilou Lab pathogenic likely pathogenic uncertain significance likely benign benign affects association likely risk allele pathogenic, low penetrance risk factor other
pathogenic 3 576 54 0 0 14 0 0 0 0 0
likely pathogenic 1023 7 200 3 1 4 0 0 1 0 0
uncertain significance 178 250 0 789 339 2 0 0 0 1 2
likely benign 15 15 880 0 829 1 0 2 0 0 2
benign 13 11 182 1679 0 0 1 0 0 1 6

Submitter to submitter summary #

Total submitters: 281
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 11588 0 1890 1036 9 228 3163
Illumina Laboratory Services, Illumina 0 4872 0 766 600 0 31 1394
Natera, Inc. 0 2646 0 296 200 0 11 507
Baylor Genetics 0 962 0 396 24 0 76 495
Counsyl 0 941 0 274 31 0 87 392
Fulgent Genetics, Fulgent Genetics 0 1215 0 324 9 0 3 336
All of Us Research Program, National Institutes of Health 0 688 0 92 110 0 17 219
Ambry Genetics 0 624 0 57 105 0 40 202
OMIM 0 332 0 134 14 2 44 194
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 560 0 149 4 0 22 175
Mendelics 0 616 0 109 40 0 21 170
Myriad Genetics, Inc. 0 258 0 107 17 0 26 150
Revvity Omics, Revvity 0 420 0 78 37 0 11 126
Color Diagnostics, LLC DBA Color Health 0 478 0 58 23 0 5 86
Genetic Services Laboratory, University of Chicago 0 219 0 37 30 0 11 78
Institute of Human Genetics, University of Leipzig Medical Center 0 141 0 36 18 0 20 74
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 433 0 59 7 0 5 71
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 108 0 27 7 0 26 60
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 254 0 58 1 0 1 60
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 143 0 45 5 0 1 51
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 212 0 38 5 0 6 49
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 138 0 44 0 0 4 48
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 139 0 45 1 0 0 46
Johns Hopkins Genomics, Johns Hopkins University 0 93 0 22 12 0 12 46
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 115 0 19 16 0 10 45
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 130 0 29 1 0 10 40
Neuberg Centre For Genomic Medicine, NCGM 0 96 0 25 1 0 11 37
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 676 0 34 2 0 0 36
3billion 0 176 0 34 0 0 1 35
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 235 0 30 4 0 0 34
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 81 0 11 6 0 16 33
GeneDx 0 235 0 29 1 0 0 30
MGZ Medical Genetics Center 0 123 0 23 5 0 2 30
PreventionGenetics, part of Exact Sciences 0 110 0 24 3 0 0 27
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 4 19 0 0 2 25
Centogene AG - the Rare Disease Company 0 37 0 17 2 0 3 22
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 109 0 16 4 0 2 22
Athena Diagnostics Inc 0 207 0 20 0 0 1 21
Medical Genetics, University of Parma 0 61 0 12 2 0 7 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 29 0 13 8 0 0 21
Medical Genomics Laboratory, Department of Genetics UAB 0 15 0 19 0 0 0 19
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 40 0 14 1 0 4 19
CeGaT Center for Human Genetics Tuebingen 0 47 0 17 1 0 1 19
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 45 0 1 16 0 1 18
CFTR-France 0 14 0 11 1 0 6 18
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 57 0 12 3 0 3 18
Clinical Biochemistry Laboratory, Health Services Laboratory 0 0 0 0 17 0 0 17
Genetics and Molecular Pathology, SA Pathology 0 52 0 10 3 0 4 17
Giacomini Lab, University of California, San Francisco 0 21 0 6 4 0 7 17
Genomics England Pilot Project, Genomics England 0 13 0 14 1 0 1 16
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 30 0 13 0 0 2 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 75 0 10 4 0 1 15
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 2 0 0 0 15 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 30 0 12 0 0 2 14
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 33 0 11 0 0 3 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 28 0 9 2 0 2 13
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 35 0 3 1 0 9 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 31 0 10 1 0 1 12
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 13 0 3 6 0 3 12
SIB Swiss Institute of Bioinformatics 0 22 0 9 3 0 0 12
New York Genome Center 0 81 0 5 7 0 0 12
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 18 0 2 7 0 2 11
Sema4, Sema4 0 34 0 9 2 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 20 0 7 0 0 4 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 21 0 9 0 0 1 10
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 11 0 10 0 0 0 10
LDLR-LOVD, British Heart Foundation 0 15 0 6 3 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 28 0 9 0 0 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 97 0 9 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 42 0 9 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 44 0 8 0 0 0 8
SingHealth Duke-NUS Institute of Precision Medicine 0 4 0 3 3 0 2 8
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 24 0 5 0 0 3 8
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 20 0 4 4 0 0 8
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 0 4 2 2 8
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 61 0 1 0 0 6 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 11 0 5 2 0 0 7
Division of Human Genetics, Children's Hospital of Philadelphia 0 18 0 5 0 0 2 7
Albrecht-Kossel-Institute, Medical University Rostock 0 3 0 2 2 0 3 7
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 13 0 3 3 0 1 7
Ocular Genomics Institute, Massachusetts Eye and Ear 0 63 0 6 1 0 0 7
Reproductive Health Research and Development, BGI Genomics 0 10 0 7 0 0 0 7
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 26 0 7 0 0 0 7
Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 7 0 7
DASA 0 34 0 7 0 0 0 7
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 18 0 5 1 0 1 7
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 24 0 4 0 0 2 6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 12 0 5 0 0 1 6
Mayo Clinic Laboratories, Mayo Clinic 0 39 0 1 5 0 0 6
Pathway Genomics 0 5 0 3 3 0 0 6
Clinical Genomics Laboratory, Washington University in St. Louis 0 6 0 1 5 0 0 6
Daryl Scott Lab, Baylor College of Medicine 0 7 0 3 2 0 1 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 28 0 5 0 0 1 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 19 0 5 1 0 0 6
Lifecell International Pvt. Ltd 0 9 0 6 0 0 0 6
Paris Brain Institute, Inserm - ICM 0 16 0 6 0 0 0 6
Elsea Laboratory, Baylor College of Medicine 0 7 0 2 1 0 2 5
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 14 0 2 2 0 1 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 10 0 4 0 0 1 5
GeneReviews 0 263 3 1 0 0 1 5
UCLA Clinical Genomics Center, UCLA 0 3 0 5 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 29 0 2 2 0 1 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 13 0 2 0 0 3 5
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 2 0 0 3 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 10 0 0 5 0 0 5
Leiden Open Variation Database 0 0 0 0 3 0 2 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 14 0 4 0 0 1 5
deCODE genetics, Amgen 0 0 0 5 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 47 0 4 0 0 1 5
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 5 0 3 0 0 2 5
CSER _CC_NCGL, University of Washington 0 11 0 0 3 0 1 4
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 16 0 0 2 0 2 4
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 1 0 2 4
Undiagnosed Diseases Network, NIH 0 5 0 4 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 2 0 4 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 10 0 3 0 0 1 4
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 0 3 0 0 1 4
Institute of Human Genetics, University Hospital Muenster 0 11 0 2 1 0 1 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 5 0 1 1 0 2 4
Suma Genomics 0 13 0 1 0 0 3 4
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 13 0 4 0 0 0 4
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 20 0 4 0 0 0 4
BRCAlab, Lund University 0 7 0 3 0 0 1 4
Institute of Human Genetics, Cologne University 0 3 0 2 0 0 1 3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 3 0 2 0 0 1 3
Clinical Genetics, Academic Medical Center 0 24 0 2 1 0 0 3
Eurofins Ntd Llc (ga) 0 41 0 3 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 6 0 3 0 0 0 3
Centre for Human Genetics 0 8 0 3 0 0 0 3
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 2 0 1 2 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 3 0 0 0 3
Database of Curated Mutations (DoCM) 0 1 0 2 0 0 1 3
True Health Diagnostics 0 1 0 3 0 0 0 3
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 0 8 0 3 0 0 0 3
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 0 1 0 2 0 0 1 3
ClinGen PAH Variant Curation Expert Panel 0 19 0 1 2 0 0 3
Gharavi Laboratory, Columbia University 0 0 0 0 0 0 3 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 8 0 3 0 0 0 3
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 0 0 0 1 0 0 2 3
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 2 1 0 0 3
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 3 0 2 0 0 1 3
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 3 0 1 2 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 3 0 0 0 0 3 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 5 0 2 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 1 1 0 0 2
CFTR2 0 11 0 1 1 0 0 2
PXE International 0 26 0 1 1 0 0 2
IIFP, CONICET-UNLP 0 9 0 1 0 0 1 2
Inserm U 954, Faculté de Médecine de Nancy 0 1 1 1 0 0 0 2
National Institute of Mental Health and Neurosciences 0 0 0 0 0 0 2 2
Atomic Energy Commission of Syria (AECS) 0 1 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 8 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 6 0 1 0 0 1 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 9 0 0 1 0 1 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 18 0 2 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 2 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 17 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 3 0 0 1 0 1 2
Neurology Department, Peking University First Hospital 0 5 0 1 0 0 1 2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 0 2 0 0 2
Phosphorus, Inc. 0 27 0 1 1 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 7 0 2 0 0 0 2
Fundacion Hipercolesterolemia Familiar 0 0 0 0 1 0 1 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 2 2
Department of Human Genetics, University Hospital Magdeburg 0 3 0 2 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 4 0 2 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 7 0 2 0 0 0 2
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 11 0 2 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 21 0 2 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 2 0 0 0 0 2 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 4 0 0 0 0 2 2
Clinical Genomics Program, Stanford Medicine 0 11 0 1 0 0 1 2
Pars Genome Lab 0 147 0 1 1 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 1 1 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 7 0 2 0 0 0 2
Centre for Human Genetics, University of Kinshasa 0 0 0 2 0 0 0 2
KTest Genetics, KTest 0 0 0 2 0 0 0 2
DBGen Ocular Genomics 0 20 0 1 0 0 1 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 2 0 0 0 2
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 0 0 0 0 0 2 2
Laboratory of Hematology, Radboud University Medical Center 0 0 0 1 1 0 0 2
Arcensus 0 9 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 13 0 2 0 0 0 2
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 1 0 2 0 0 0 2
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 0 0 0 2 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 4 0 0 0 0 1 1
King Laboratory, University of Washington 0 2 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 3 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 6 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 4 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 1 0 1 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 1 0 0 0 0 1 1
Department of Prosthodontics, Peking University School and Hospital of Stomatology 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 1 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 0 0 1 0 0 0 1
Unidad de Estudios Geneticos y Forenses, Instituto Venezolano de Investigaciones Cientificas 0 0 0 0 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 0 1 0 0 0 1
University Children's Hospital, University of Zurich 0 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 4 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 0 0 0 1 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
McDonnell Genome Institute, Washington University in St. Louis 0 0 0 0 0 0 1 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 1 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 2 0 1 0 0 0 1
Vantari Genetics 0 0 0 1 0 0 0 1
Human Genetics Disease in Children – Taif University, Taif University 0 4 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 4 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 1 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 0 1 0 1 0 0 0 1
Research Group Niklas Dahl, Uppsala University 0 0 0 1 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 0 1 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 1 0 0 0 1
Robarts Research Institute, Western University 0 2 0 0 1 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 0 1 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 3 0 1 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 5 0 1 0 0 0 1
Iberoamerican FH Network 0 3 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 2 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 14 0 0 0 0 1 1
Center of Medical Genetics, Central South University 0 1 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 3 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 5 0 0 0 0 1 1
Laboratory of Medical Genetics, University of Torino 0 1 0 1 0 0 0 1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 0 0 1 0 0 0 1
Acibadem Labgen Genetic Diagnostic Center 0 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 3 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 6 0 1 0 0 0 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski 0 0 0 0 0 0 1 1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 0 0 0 1 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 0 0 0 1 0 0 0 1
Molecular Therapies Laboratory, Murdoch University 0 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 1 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 1 0 0 0 0 1 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 0 0 0 1 1
Division of Medical Genetics, University of Washington 0 1 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 1 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 0 4 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 0 0 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 2 0 1 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1 1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 11 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 1 0 0 1
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 0 2 0 0 0 0 1 1
Precision Medicine Center, Zhengzhou University 0 2 0 0 0 0 1 1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 0 1 0 0 1 0 0 1
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 1 0 0 0 0 1 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 1 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 1 1
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 0 2 0 1 0 0 0 1
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province 0 0 0 0 0 1 0 1
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich 0 0 0 1 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 6 0 1 0 0 0 1
Eurofins-Biomnis 0 3 0 1 0 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 2 0 1 0 0 0 1
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute 0 0 0 0 1 0 0 1
Génetica Clinica/ Bioquímica Clínica, Genética Hospital Universitario Miguel Servet 0 0 0 0 1 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 0 0 0 1 0 1
Pangenia Genomics, Pangenia Inc. 0 3 0 0 0 0 1 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 4 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 0 1 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 4 0 1 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 0 0 1 0 0 0 1
Sayed Lab, Stanford University 0 0 0 0 1 0 0 1
Biotechnology Lab, University of Central Punjab 0 1 0 0 0 0 1 1
Farhud Genetics Clinic, Farhud Genetics Lab 0 0 0 1 0 0 0 1
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 0 2 0 1 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 6483
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
NM_004998.4(MYO1E):c.332+8G>A rs4508371 0.97982
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_012203.2(GRHPR):c.288-11C>T rs2736664 0.92549
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000527.5(LDLR):c.2312-136A>G rs2569538 0.86836
NM_012203.2(GRHPR):c.494-68A>G rs309459 0.86126
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458 0.85807
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000030.3(AGXT):c.777-44A>G rs12464426 0.79262
NM_001366385.1(CARD14):c.675+26G>A rs4889991 0.77525
NM_002526.4(NT5E):c.1126A>G (p.Thr376Ala) rs2229523 0.76397
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_014585.6(SLC40A1):c.44-24G>C rs1439816 0.69640
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_000243.3(MEFV):c.*245G>A rs2741919 0.58215
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=) rs3827075 0.49054
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_000030.3(AGXT):c.846+52G>A rs12695032 0.43208
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_001366385.1(CARD14):c.2399-4A>G rs11653893 0.40359
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp) rs11652075 0.39960
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_001366385.1(CARD14):c.633G>A (p.Glu211=) rs4889990 0.37893
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup) rs397841722 0.31640
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_000030.3(AGXT):c.524+91C>T rs10196315 0.29513
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
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_000527.5(LDLR):c.1705+56C>T rs4508523 0.21747
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_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20376
NM_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_138413.4(HOGA1):c.212-21A>G rs11817730 0.19877
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
NM_138413.4(HOGA1):c.700+67G>A rs2297643 0.16278
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.15471
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_000030.3(AGXT):c.680+17C>T rs11693280 0.14843
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14826
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly) rs2266780 0.14140
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=) rs6545910 0.10308
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_000527.5(LDLR):c.190+56G>A rs3745677 0.09858
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678 0.09671
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09206
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=) rs3818587 0.08745
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08705
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_017433.5(MYO3A):c.624C>T (p.Asp208=) rs35010955 0.08016
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_000129.4(F13A1):c.1704A>G (p.Glu568=) rs5986 0.07753
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_001384474.1(LOXHD1):c.5399+13G>A rs59128481 0.07068
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06993
NM_003060.4(SLC22A5):c.1052+101A>G rs2073645 0.06948
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_017433.5(MYO3A):c.660C>T (p.Ala220=) rs34067308 0.06790
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_002529.4(NTRK1):c.1806-4del rs1799770 0.06316
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser) rs33947968 0.06209
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954 0.06060
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368 0.05740
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_014324.6(AMACR):c.*617G>T rs12659370 0.04114
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=) rs13251676 0.04058
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_001184.4(ATR):c.3725+18A>G rs73864554 0.03416
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058 0.03285
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_001256864.2(DNAJC6):c.194-20_194-19insG rs111346712 0.03019
NM_014625.4(NPHS2):c.873+7A>G rs115778946 0.03013
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_182894.3(VSX2):c.831G>A (p.Leu277=) rs62006815 0.02860
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951 0.02765
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456 0.02716
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290 0.02692
NM_018122.5(DARS2):c.663+8T>C rs73037062 0.02691
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02534
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) rs45523133 0.02328
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=) rs150233193 0.02319
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met) rs35471427 0.02295
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) rs17323225 0.02243
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997 0.02164
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) rs34929837 0.02155
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217 0.02154
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_000379.4(XDH):c.1134C>T (p.Gly378=) rs45612738 0.02057
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_018136.5(ASPM):c.*60C>T rs1537318 0.02044
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=) rs76442115 0.02017
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873 0.02017
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799 0.01986
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_005138.2(SCO2):c.-142G>C rs145052206 0.01794
NM_019032.6(ADAMTSL4):c.3083G>A (p.Arg1028His) rs56411234 0.01782
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=) rs111986360 0.01774
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_002160.4(TNC):c.6006G>A (p.Leu2002=) rs61736828 0.01597
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=) rs146575027 0.01595
NM_000243.3(MEFV):c.*133G>A rs2075849 0.01591
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln) rs61738263 0.01534
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_030787.4(CFHR5):c.507C>T (p.Asp169=) rs34533956 0.01500
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_030787.4(CFHR5):c.254-8T>G rs114023763 0.01451
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_030787.4(CFHR5):c.330A>C (p.Val110=) rs61745675 0.01447
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487 0.01385
NM_018136.5(ASPM):c.2751C>T (p.Ala917=) rs33987824 0.01382
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704 0.01305
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_002529.4(NTRK1):c.2047-11G>A rs79173278 0.01269
NM_019032.6(ADAMTSL4):c.3139C>A (p.Arg1047=) rs113799188 0.01266
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=) rs116696830 0.01217
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633 0.01153
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp) rs79155191 0.01148
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=) rs60039430 0.01134
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) rs73970129 0.01063
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=) rs117310292 0.00992
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_019032.6(ADAMTSL4):c.2906C>A (p.Ala969Asp) rs150225445 0.00984
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=) rs16947744 0.00969
NM_019032.6(ADAMTSL4):c.2121G>A (p.Ala707=) rs41317525 0.00968
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779 0.00966
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=) rs111487086 0.00949
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) rs7598640 0.00939
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_000553.6(WRN):c.2241T>G (p.Leu747=) rs2230011 0.00921
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=) rs141666432 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe) rs117228915 0.00888
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_022356.4(P3H1):c.2055+70G>T rs115690038 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782 0.00836
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001267550.2(TTN):c.33340+10T>C rs72650039 0.00830
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798 0.00826
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile) rs117367857 0.00826
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_019032.6(ADAMTSL4):c.803C>T (p.Ser268Phe) rs41317517 0.00813
NM_001148.6(ANK2):c.3379+12T>G rs139528815 0.00812
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425 0.00792
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_000110.4(DPYD):c.1371C>T (p.Asn457=) rs57918000 0.00785
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382 0.00753
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg) rs140540720 0.00750
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979 0.00702
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977 0.00701
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00682
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg) rs144534810 0.00679
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00673
NM_005633.4(SOS1):c.*3458A>C rs114232209 0.00673
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) rs76815324 0.00667
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_025137.4(SPG11):c.2621-15T>G rs188590034 0.00667
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_000210.4(ITGA6):c.2247C>G (p.Val749=) rs61748247 0.00663
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_000453.3(SLC5A5):c.839+11C>T rs182064161 0.00650
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) rs77617474 0.00638
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_004525.3(LRP2):c.923-6G>A rs144147038 0.00611
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_000527.5(LDLR):c.2389+57C>T rs145293532 0.00605
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_031418.4(ANO3):c.1968C>T (p.Ile656=) rs149050831 0.00597
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=) rs1805062 0.00578
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077 0.00573
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=) rs6335 0.00563
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_000069.3(CACNA1S):c.-68T>C rs140748567 0.00558
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_000018.3(ACADVL):c.-64T>C rs77051465 0.00545
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_000379.4(XDH):c.1857-4G>A rs17395175 0.00541
NM_000486.6(AQP2):c.39G>A (p.Val13=) rs61733029 0.00540
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695 0.00525
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437 0.00523
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_000379.4(XDH):c.3405-15T>C rs141728694 0.00516
NM_000553.6(WRN):c.1725T>C (p.Tyr575=) rs13438802 0.00516
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_000553.6(WRN):c.1788T>C (p.Ser596=) rs13438803 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_015346.4(ZFYVE26):c.7586C>G (p.Pro2529Arg) rs143198225 0.00510
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_000069.3(CACNA1S):c.*310A>T rs190783634 0.00503
NM_001182.5(ALDH7A1):c.1009-6G>A rs138056453 0.00500
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_000379.4(XDH):c.1751A>C (p.Asp584Ala) rs45491693 0.00492
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu) rs141335716 0.00485
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_000379.4(XDH):c.3951+14C>G rs201055814 0.00484
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_022367.4(SEMA4A):c.1434+12C>A rs114835695 0.00483
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_000546.6(TP53):c.672+31A>G rs34949160 0.00479
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn) rs182616621 0.00456
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=) rs114267234 0.00446
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740 0.00443
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00441
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149 0.00439
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525 0.00433
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_015166.4(MLC1):c.279G>A (p.Ser93=) rs11568172 0.00422
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601 0.00421
NM_005633.4(SOS1):c.*3569T>C rs115465194 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_024426.6(WT1):c.*16G>T rs2234594 0.00421
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=) rs116378128 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) rs11574395 0.00418
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466 0.00416
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637 0.00415
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105 0.00411
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262 0.00410
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00406
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val) rs140812293 0.00388
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=) rs114088252 0.00386
NM_004525.3(LRP2):c.13620+14C>G rs142018904 0.00384
NM_001042492.3(NF1):c.-22G>C rs556823296 0.00381
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val) rs139775414 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000379.4(XDH):c.397G>A (p.Glu133Lys) rs45447191 0.00362
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His) rs144020613 0.00362
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_001394062.1(MACF1):c.3450G>A (p.Lys1150=) rs147586507 0.00361
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=) rs151284138 0.00356
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_025137.4(SPG11):c.64A>G (p.Met22Val) rs34255962 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479 0.00347
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_004525.3(LRP2):c.403G>A (p.Asp135Asn) rs142594441 0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000191.3(HMGCL):c.61-17C>T rs56913973 0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile) rs148233131 0.00335
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) rs148259739 0.00334
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349 0.00333
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000379.4(XDH):c.3271G>C (p.Val1091Leu) rs45619033 0.00328
NM_004525.3(LRP2):c.6967C>T (p.Leu2323=) rs149367019 0.00326
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_000410.4(HFE):c.189T>C (p.His63=) rs147426902 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) rs144615758 0.00298
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00297
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136 0.00296
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_004525.3(LRP2):c.5538+10C>T rs115659204 0.00296
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=) rs147438950 0.00289
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00282
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673 0.00279
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337 0.00273
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00272
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 0.00267
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) rs35005216 0.00257
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00256
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_031935.3(HMCN1):c.13313-5C>T rs184095385 0.00253
NM_001256864.2(DNAJC6):c.194-18T>G rs201249130 0.00252
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_002529.4(NTRK1):c.612G>A (p.Ser204=) rs114320051 0.00251
NM_000379.4(XDH):c.1629C>T (p.Phe543=) rs140651875 0.00250
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_001394062.1(MACF1):c.1799G>A (p.Arg600Gln) rs139794027 0.00250
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_004525.3(LRP2):c.2079C>T (p.Phe693=) rs145709922 0.00246
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 0.00245
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_005751.5(AKAP9):c.11098-13T>G rs76709221 0.00235
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_013275.6(ANKRD11):c.7296C>T (p.Ser2432=) rs146648782 0.00233
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) rs146976883 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00232
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_031935.3(HMCN1):c.4475+9C>A rs111694556 0.00229
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_004525.3(LRP2):c.769+9G>A rs148452352 0.00225
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699 0.00222
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=) rs144388375 0.00222
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919 0.00222
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser) rs148356370 0.00217
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg) rs17884293 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00212
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=) rs78613732 0.00210
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_001148.6(ANK2):c.2277+9C>T rs141965666 0.00205
NM_001394062.1(MACF1):c.3924G>A (p.Ser1308=) rs150560748 0.00205
NM_004525.3(LRP2):c.10170-15T>G rs144579935 0.00205
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00203
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala) rs35413340 0.00196
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00195
NM_004525.3(LRP2):c.2513+14T>C rs201785482 0.00195
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594 0.00191
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_019032.6(ADAMTSL4):c.2763+12G>A rs200136870 0.00185
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_004525.3(LRP2):c.10233C>T (p.Phe3411=) rs139363553 0.00183
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala) rs79577190 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_002506.3(NGF):c.78C>T (p.Val26=) rs150188752 0.00177
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=) rs370950694 0.00174
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00170
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_000110.4(DPYD):c.1525-11G>A rs55699321 0.00166
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly) rs149276487 0.00166
NM_002529.4(NTRK1):c.1354+18A>T rs73004759 0.00164
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_014495.4(ANGPTL3):c.228C>G (p.Asn76Lys) rs149086653 0.00161
NM_014297.5(ETHE1):c.*55G>T rs201842186 0.00160
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=) rs56173868 0.00156
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn) rs142373563 0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_001367561.1(DOCK7):c.2700C>T (p.Ser900=) rs35648144 0.00154
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) rs146115458 0.00154
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) rs143627839 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=) rs34055681 0.00143
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895 0.00143
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_001148.6(ANK2):c.7902G>A (p.Val2634=) rs150878494 0.00138
NM_002529.4(NTRK1):c.287+12G>A rs202238126 0.00138
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg) rs141748831 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_006623.4(PHGDH):c.510+6A>G rs371736796 0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met) rs140998225 0.00131
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00124
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000035.4(ALDOB):c.*12C>T rs201867948 0.00118
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078 0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile) rs200852197 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=) rs137985903 0.00110
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly) rs34592807 0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_001184.4(ATR):c.2637C>T (p.Ala879=) rs150512706 0.00105
NM_018136.5(ASPM):c.-9G>T rs141108591 0.00105
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048 0.00102
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001126108.2(SLC12A3):c.1567+7C>T rs376819753 0.00101
NM_001184.4(ATR):c.4200A>T (p.Leu1400=) rs150562945 0.00101
NM_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872 0.00101
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057 0.00101
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_001182.4(ALDH7A1):c.-29T>C rs556650006 0.00100
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00098
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe) rs148299415 0.00098
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu) rs187080747 0.00098
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=) rs558301893 0.00097
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000379.4(XDH):c.636T>C (p.Phe212=) rs140225517 0.00095
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) rs2274498 0.00095
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990 0.00095
NM_031935.3(HMCN1):c.2212+8T>G rs183165464 0.00095
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522 0.00093
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_001184.4(ATR):c.5070C>T (p.Ala1690=) rs142881746 0.00092
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter) rs138597671 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=) rs151079411 0.00091
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_001148.6(ANK2):c.1863C>G (p.Ser621=) rs146425138 0.00089
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_001394062.1(MACF1):c.13145A>G (p.Asn4382Ser) rs148069432 0.00088
NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu) rs142723093 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204 0.00086
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu) rs202216051 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297 0.00085
NM_004525.3(LRP2):c.987G>A (p.Ala329=) rs141751667 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_018122.5(DARS2):c.128-5T>A rs200078808 0.00084
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000396.4(CTSK):c.-1-9C>T rs200480574 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001367561.1(DOCK7):c.480T>C (p.Ser160=) rs142535471 0.00083
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu) rs200351209 0.00083
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala) rs201401760 0.00083
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736 0.00081
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=) rs149521997 0.00079
NM_005751.5(AKAP9):c.6508-20A>T rs374874284 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491 0.00078
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418 0.00076
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00075
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_020822.3(KCNT1):c.1619+18C>T rs183348093 0.00074
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr) rs141068875 0.00073
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_015166.4(MLC1):c.627C>T (p.Ala209=) rs138153307 0.00071
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681 0.00070
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) rs7164127 0.00070
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_001267550.2(TTN):c.30224-8T>G rs72650010 0.00070
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln) rs149776253 0.00070
NM_015346.4(ZFYVE26):c.273+13A>G rs150070634 0.00070
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) rs146867591 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) rs11574345 0.00069
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_020822.3(KCNT1):c.3503-18C>T rs373901872 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00067
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900 0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867 0.00067
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=) rs141068435 0.00065
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser) rs201298102 0.00064
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_015627.3(LDLRAP1):c.432C>T (p.His144=) rs200840583 0.00064
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00063
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu) rs145792427 0.00063
NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala) rs145759179 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_004525.3(LRP2):c.11264-14C>G rs377424162 0.00062
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379 0.00061
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873 0.00061
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly) rs199691161 0.00061
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=) rs143931757 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_005633.4(SOS1):c.*44T>C rs182657531 0.00060
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser) rs142527333 0.00059
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_020822.3(KCNT1):c.1770-16C>T rs192658955 0.00059
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg) rs139019255 0.00058
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_000642.3(AGL):c.3084-8T>C rs186402161 0.00056
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr) rs149730454 0.00056
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317 0.00055
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745 0.00054
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00054
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465 0.00053
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000709.4(BCKDHA):c.289-5C>T rs200646708 0.00053
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) rs61736656 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val) rs145812868 0.00052
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_001148.6(ANK2):c.7971C>T (p.Ser2657=) rs146085234 0.00051
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu) rs183034705 0.00051
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu) rs373218212 0.00051
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506 0.00051
NM_206933.4(USH2A):c.10741-8G>A rs369968349 0.00051
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000553.6(WRN):c.1882C>G (p.Leu628Val) rs77969734 0.00050
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_014159.7(SETD2):c.1415G>A (p.Arg472His) rs201984344 0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu) rs139091750 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_001099922.3(ALG13):c.1327-19A>G rs375412069 0.00048
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_004924.6(ACTN4):c.2316G>A (p.Ala772=) rs192382222 0.00048
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys) rs140373729 0.00048
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=) rs139514301 0.00047
NM_014159.7(SETD2):c.7164C>T (p.Thr2388=) rs144752494 0.00047
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721 0.00046
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958 0.00046
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) rs150711896 0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=) rs145179638 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664 0.00045
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_004525.3(LRP2):c.2320+9G>A rs368933798 0.00044
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_001182.5(ALDH7A1):c.774-18G>A rs185333013 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) rs143884041 0.00043
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_020822.3(KCNT1):c.3502+12C>T rs367727105 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_006939.4(SOS2):c.2162-10C>T rs375702667 0.00042
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr) rs140370885 0.00042
NM_020366.4(RPGRIP1):c.1078-9C>A rs371312060 0.00042
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile) rs150382715 0.00041
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00041
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=) rs142469039 0.00041
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer) rs145521179 0.00041
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00040
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) rs144449508 0.00040
NM_018122.5(DARS2):c.580G>A (p.Val194Ile) rs186723843 0.00040
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) rs141596008 0.00040
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763 0.00039
NM_001099922.3(ALG13):c.2248-15G>C rs139711892 0.00039
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser) rs546442503 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=) rs146783211 0.00039
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr) rs3733616 0.00038
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797 0.00038
NM_014159.7(SETD2):c.1734A>T (p.Leu578Phe) rs138401612 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=) rs146406377 0.00038
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg) rs201047107 0.00037
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=) rs146053295 0.00037
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_001099922.3(ALG13):c.1729+14A>G rs763484848 0.00036
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser) rs144516367 0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681 0.00036
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=) rs143515214 0.00035
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
NM_004924.6(ACTN4):c.2191-5C>T rs186662077 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr) rs786203769 0.00034
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=) rs141727314 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302 0.00034
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=) rs149049198 0.00034
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00033
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414 0.00033
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_004924.6(ACTN4):c.2679C>T (p.Pro893=) rs146493523 0.00033
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00033
NM_015346.4(ZFYVE26):c.2481C>A (p.Pro827=) rs139283212 0.00033
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) rs138776748 0.00033
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_022455.5(NSD1):c.639C>T (p.Ser213=) rs755931458 0.00032
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) rs145540754 0.00031
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_004525.3(LRP2):c.1731G>A (p.Arg577=) rs142698246 0.00031
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn) rs138005965 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 0.00030
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_004525.3(LRP2):c.3551-9C>A rs373882047 0.00030
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000243.3(MEFV):c.231C>A (p.Ile77=) rs139899201 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.2626-4T>C rs777386691 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000642.3(AGL):c.82+4A>C