ClinVar Miner

Variants from CeGaT Center for Human Genetics Tuebingen with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from CeGaT Center for Human Genetics Tuebingen: Collection method of the submission from CeGaT Center for Human Genetics Tuebingen:
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
49930 21215 62 15924 9100 152 1363 24102

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
CeGaT Center for Human Genetics Tuebingen pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor other
pathogenic 0 934 289 27 24 0 4 26 1 0 5 0 16 23
likely pathogenic 589 0 444 18 7 0 1 3 1 0 0 0 4 2
uncertain significance 185 330 13 2684 596 1 0 3 1 2 0 1 7 5
likely benign 37 82 5522 18 11108 0 1 7 0 0 0 1 14 4
benign 20 19 641 3294 31 1 0 9 0 1 0 1 16 11

Submitter to submitter summary #

Total submitters: 249
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 12662 0 6288 1995 6 290 8578
GeneDx 0 12774 0 5005 2096 1 390 7490
PreventionGenetics, part of Exact Sciences 0 10141 0 3088 1068 3 105 4264
Eurofins Ntd Llc (ga) 0 3524 0 1302 2028 24 149 3500
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1882 0 1248 472 0 132 1852
Athena Diagnostics Inc 0 1755 0 1289 340 0 50 1678
Genetic Services Laboratory, University of Chicago 0 2216 0 907 671 5 31 1614
Ambry Genetics 0 3008 0 482 942 0 49 1472
Clinical Genetics, Academic Medical Center 0 1221 0 1162 152 0 16 1330
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1756 0 710 411 2 48 1171
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1997 0 840 283 1 47 1171
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3432 0 784 331 0 27 1142
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1437 0 626 155 0 28 809
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1903 0 662 118 0 14 794
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1156 0 581 126 0 5 712
Quest Diagnostics Nichols Institute San Juan Capistrano 0 890 0 463 186 0 29 677
Mayo Clinic Laboratories, Mayo Clinic 0 1114 0 161 437 0 50 647
Illumina Laboratory Services, Illumina 0 497 0 158 429 0 48 628
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 671 0 378 147 0 21 546
Revvity Omics, Revvity 0 1379 0 140 323 0 74 537
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1102 0 319 149 0 15 483
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 645 0 158 147 0 10 315
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 208 57 97 158 0 2 314
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 747 0 249 55 0 7 311
Department of Pathology and Laboratory Medicine, Sinai Health System 0 353 0 92 178 1 26 297
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 351 0 62 212 0 15 289
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 122 0 72 78 0 3 153
OMIM 0 115 0 14 17 75 34 140
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 332 0 80 45 0 1 126
Mendelics 0 89 0 38 53 0 13 104
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 21 0 13 10 0 81 104
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 503 0 80 0 0 23 103
Fulgent Genetics, Fulgent Genetics 0 281 0 54 32 0 4 90
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 74 0 14 56 0 7 77
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 177 0 62 12 0 0 74
AiLife Diagnostics, AiLife Diagnostics 0 139 0 42 13 0 13 68
Color Diagnostics, LLC DBA Color Health 0 177 0 41 17 0 5 63
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 65 0 41 16 3 0 60
All of Us Research Program, National Institutes of Health 0 172 0 20 17 0 18 55
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 96 0 22 22 0 2 46
Clinical Genetics and Genomics, Karolinska University Hospital 0 135 0 38 0 0 7 45
RettBASE 0 3 0 31 7 0 1 39
Blueprint Genetics 0 121 0 14 15 0 9 38
CSER _CC_NCGL, University of Washington 0 25 0 10 21 0 5 36
PharmGKB 0 0 0 0 0 35 0 35
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 52 0 17 5 2 11 35
Natera, Inc. 0 82 0 20 10 0 3 33
Leiden Open Variation Database 0 40 0 12 14 0 3 29
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 60 0 12 8 3 7 29
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 90 0 6 13 0 9 28
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 37 0 8 16 0 3 27
NIHR Bioresource Rare Diseases, University of Cambridge 0 22 0 17 2 0 8 27
Kariminejad - Najmabadi Pathology & Genetics Center 0 63 0 20 2 0 5 27
Gharavi Laboratory, Columbia University 0 30 0 9 10 0 7 26
Institute of Human Genetics, University Hospital Muenster 0 62 0 9 12 0 3 24
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 17 0 22 0 0 0 22
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 37 0 21 0 0 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 37 0 6 10 0 5 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 12 0 4 17 0 0 21
Baylor Genetics 0 58 0 15 0 0 5 20
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 25 0 10 3 0 7 20
Genome-Nilou Lab 0 47 0 17 1 0 1 19
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 4 0 8 2 0 8 18
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 8 0 2 11 0 4 17
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 8 0 0 8 16
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 1 4 0 12 16
New York Genome Center 0 11 0 2 10 0 4 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 9 1 0 5 13
Institute of Human Genetics, University of Leipzig Medical Center 0 14 0 6 2 0 5 13
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 15 0 5 4 0 3 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 12 0 5 3 0 2 10
Institute of Reproductive Genetics, University of Münster 0 8 0 2 4 0 4 10
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 2 3 3 0 1 9
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 10 0 7 2 0 0 9
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 12 0 4 3 0 1 8
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 1 5 2 0 0 8
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 30 0 4 1 0 3 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 5 1 0 2 8
University of Washington Department of Laboratory Medicine, University of Washington 0 5 0 2 2 1 3 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 7 0 3 0 0 5 8
King Laboratory, University of Washington 0 0 0 4 2 0 1 7
Yale Center for Mendelian Genomics, Yale University 0 7 0 5 0 0 2 7
Department of Pathology and Molecular Medicine, Queen's University 0 5 0 6 1 0 0 7
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 8 0 3 2 0 2 7
Faculty of Health Sciences, Beirut Arab University 0 16 0 3 0 0 4 7
Diagnostic Laboratory, Strasbourg University Hospital 0 9 0 4 2 0 0 6
Inherited Neuropathy Consortium 0 3 0 2 2 0 2 6
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 5 0 4 2 0 0 6
Claritas Genomics 0 4 0 0 5 0 0 5
MGZ Medical Genetics Center 0 8 0 1 3 0 1 5
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 3 2 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 6 0 4 0 0 1 5
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 4 0 1 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 24 0 4 0 0 1 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 2 3 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 57 0 4 1 0 1 5
Santos-Cortez Lab, University of Colorado School of Medicine 0 0 0 0 4 0 1 5
Center for Personalized Medicine, Children's Hospital Los Angeles 0 13 0 3 0 0 2 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 15 0 2 1 0 2 5
Laboratoire Génétique Moléculaire, CHRU TOURS 0 3 0 5 0 0 0 5
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 2 0 1 0 1 4
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 9 0 2 1 0 1 4
Center for Genetic Medicine Research, Children's National Medical Center 0 2 0 0 3 0 1 4
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 3 1 0 0 4
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 4 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 18 0 3 1 0 0 4
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 1 0 0 0 0 4 4
Database of Curated Mutations (DoCM) 0 0 0 4 0 0 0 4
Undiagnosed Diseases Network, NIH 0 10 0 0 4 0 1 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 16 0 3 0 0 1 4
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 3 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 9 0 1 0 0 3 4
Bruce Budowle Laboratory, University of North Texas Health Science Center 0 0 0 0 0 4 0 4
CFTR-France 0 11 0 1 0 0 3 4
Molecular Genetics laboratory, Necker Hospital 0 14 0 2 0 0 2 4
Department of Vascular Biology, Beijing Anzhen Hospital 0 5 0 2 2 0 0 4
3billion 0 2 0 3 0 0 1 4
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 14 0 1 0 0 3 4
DASA 0 26 0 2 0 0 2 4
Molecular Genetics, Royal Melbourne Hospital 0 4 0 1 2 0 1 4
Elsea Laboratory, Baylor College of Medicine 0 0 0 0 0 0 3 3
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 2 0 1 3
GeneKor MSA 0 27 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 6 0 2 0 0 1 3
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 1 0 0 3 0 0 3
Medical Genetics Summaries 0 0 0 0 0 3 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 3 0 0 2 0 1 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 7 0 0 1 0 2 3
CZECANCA consortium 0 42 0 2 0 0 1 3
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 1 1 1 3
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 2 0 2 0 0 1 3
Laan Lab, Human Genetics Research Group, University of Tartu 0 4 0 0 0 0 3 3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 2 0 0 3
Institute of Human Genetics, Cologne University 0 0 0 0 2 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 8 0 0 0 0 2 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
GenMed Metabolism Lab 0 6 0 1 0 0 1 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 6 0 1 0 0 1 2
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 1 2
Chan Lab, Boston Children's Hospital 0 0 0 0 0 0 2 2
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 1 1 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 3 0 0 2 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 2 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 3 0 1 1 0 0 2
Laboratory of Molecular Genetics, CHU RENNES 0 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 4 0 0 1 0 1 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 6 0 1 0 0 1 2
Department of Human Genetics, University Hospital Magdeburg 0 0 0 0 2 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 1 0 0 1 2
Lab. Molecular Oncology, VUB, Free University of Brussels 0 2 0 0 2 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 1 2
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 0 0 1 0 0 1 2
Klaassen Lab, Charite University Medicine Berlin 0 3 0 1 0 0 1 2
Regeneron Genetics Center, Regeneron 0 1 0 0 0 0 2 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 1 0 1 2
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 1 0 0 1 2
Human Genetics Bochum, Ruhr University Bochum 0 5 0 2 0 0 0 2
Rare Disease Center, Seoul National University Hospital 0 0 0 2 0 0 0 2
Faculty of Pharmacy, University of Ljubljana 0 0 0 0 1 0 1 2
Clinical Biochemistry Laboratory, Health Services Laboratory 0 0 0 0 0 0 1 1
FirmaLab, FirmaLab 0 0 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 2 0 1 0 0 0 1
Counsyl 0 2 0 1 0 0 0 1
GeneReviews 0 7 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 32 0 1 0 0 0 1
Mitochondrial Research; Murdoch Childrens Research Institute 0 0 0 0 1 0 0 1
Elahi Laboratory, University of Tehran 0 0 0 0 0 0 1 1
Department of Genetics, Robert DEBRE University Hospital 0 2 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 0 0 0 0 1 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 0 0 0 1 0 0 1
U955 Equipe 11, INSERM 0 0 0 0 0 0 1 1
Sydney Children's Hospital, SCHN 0 0 0 0 0 0 1 1
Bone Marrow Failure laboratory, Queen Mary University London 0 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 3 0 0 1 0 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Care4Rare-SOLVE, CHEO 0 3 0 1 0 0 0 1
UW Hindbrain Malformation Research Program, University of Washington 0 1 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 0 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 1 0 0 0 0 1 1
Aziz Sancar Institute of Experimental Medicine, Istanbul University 0 0 0 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 3 0 1 0 0 0 1
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 1 0 1
Beijing Municipal Key Laboratory, Capital Institute of Pediatrics 0 0 0 0 0 1 0 1
Center for Statistical Genetics, Columbia University 0 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 95244 2 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 0 1 0 0 1
Clinical Pharmacogenetics Implementation Consortium 0 0 0 0 0 1 0 1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 1 0 0 1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 0 0 0 0 1 1
Phosphorus, Inc. 0 5 0 0 0 0 1 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
TIDEX, University of British Columbia 0 0 0 0 1 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 1 1 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 1 0 1 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 0 0 0 1 1
Flegel Lab, National Institutes of Health 0 0 0 0 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 0 0 0 0 0 1 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 4 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 3 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 1 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 2 0 0 1 0 0 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 1 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 0 1 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 0 1 1 0 0 1
3DMed Clinical Laboratory Inc 0 1 0 0 1 0 0 1
Institute of Clinical Molecular Biology, Kiel University 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 0 1 0 0 1
Codex Genetics Limited 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 2 0 0 1 0 0 1
Center for Reproductive Medicine, Peking University Third Hospital 0 1 0 0 1 0 0 1
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 0 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 1 0 0 1
Rare Disease Group, University of Exeter 0 0 0 0 0 0 1 1
Istanbul Faculty of Medicine, Istanbul University 0 0 0 0 0 0 1 1
Central Laboratory, The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
Population Bio, Inc. 0 0 0 0 0 1 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
Constitutional Genetics Lab, Leon Berard Cancer Center 0 13 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 0 0 1 0 0 1
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 3 0 0 1 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 0 1 0 0 1
Wainwright Lab, University Of Queensland 0 0 0 0 0 0 1 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 1 0 0 0 1
Francois Mercier Lab, McGill University 0 0 0 0 0 0 1 1
Phenosystems SA 0 0 0 0 1 0 0 1
Oasi Research Institute-IRCCS 0 0 0 0 1 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 3 0 0 0 0 1 1
Houlden Lab, UCL Institute of Neurology 0 0 0 1 0 0 0 1
Ulrich Schweizer laboratory, Universitaetsklinikum Bonn 0 1 0 1 0 0 0 1
H3Africa Consortium 0 0 0 0 1 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 0 0 0 1 1
Otolaryngology Branch - NIDCD, NIH 0 0 0 0 0 0 1 1
Cytogenetics, Genetics Associates, Inc. 0 0 0 0 0 0 1 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 0 0 0 1 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 3 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 24102
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_025225.3(PNPLA3):c.1300A>G (p.Lys434Glu) rs2294918 0.69785
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_199161.5(SAA1):c.209C>T (p.Ala70Val) rs1136743 0.54337
NM_000104.4(CYP1B1):c.1294= (p.Leu432=) rs1056836 0.48746
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) rs5982 0.18893
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) rs1803274 0.18493
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg) rs782650611 0.11673
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926 0.09970
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_004483.5(GCSH):c.-4G>T rs779613867 0.09245
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.04046
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) rs45556841 0.02871
NM_000316.3(PTH1R):c.313+32A>G rs113566258 0.02868
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_000513.2(OPN1MW):c.521C>T (p.Ala174Val) rs372044027 0.02377
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) rs56069227 0.02325
NC_000012.12:g.6125718G>A rs151088025 0.02305
NM_182972.3(IRF2BP2):c.352C>T (p.Pro118Ser) rs148187914 0.02203
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273 0.02073
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_017637.6(BNC2):c.2768C>T (p.Ala923Val) rs117452684 0.01981
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_198391.3(FLRT3):c.1134A>C (p.Gln378His) rs36034779 0.01871
NM_173689.7(CRB2):c.2680G>A (p.Gly894Ser) rs144714250 0.01838
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met) rs61734638 0.01825
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718 0.01765
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser) rs752071055 0.01748
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_021076.4(NEFH):c.2022A>C (p.Ala674=) rs763507482 0.01733
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_152750.5(CDHR3):c.1653+3G>A rs117797654 0.01697
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
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_001142446.2(ANK1):c.127-39554G>A rs183894680 0.01664
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val) rs41305805 0.01624
NM_001350162.2(TEX15):c.7118G>A (p.Ser2373Asn) rs61738844 0.01620
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_198391.3(FLRT3):c.1129G>A (p.Ala377Thr) rs8120693 0.01560
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 0.01485
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_006059.4(LAMC3):c.-2C>T rs137883250 0.01424
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_020821.3(VPS13C):c.6024G>C (p.Glu2008Asp) rs78071599 0.01394
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_015378.4(VPS13D):c.9024T>C (p.Ile3008=) rs41279460 0.01391
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val) rs2230723 0.01376
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_006885.4(ZFHX3):c.6156G>A (p.Pro2052=) rs148383343 0.01359
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser) rs34230288 0.01330
NM_012268.4(PLD3):c.1326G>A (p.Ala442=) rs4819 0.01329
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
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_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_006883.2(SHOX):c.653G>A (p.Arg218His) rs193072890 0.01306
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_152783.5(D2HGDH):c.293-23A>T rs145731647 0.01298
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01297
NM_000110.4(DPYD):c.1129-5923C>G rs75017182 0.01296
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_000243.2(MEFV):c.-330G>A rs11466013 0.01286
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_032551.5(KISS1R):c.687C>T (p.Arg229=) rs115335009 0.01285
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458 0.01273
NM_005228.5(EGFR):c.1881-721G>A rs17336988 0.01263
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_016341.4(PLCE1):c.1207-47T>C rs140613465 0.01256
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp) rs36038685 0.01237
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_005360.5(MAF):c.702A>C (p.Gly234=) rs779108045 0.01232
NM_003922.4(HERC1):c.5839C>T (p.Leu1947=) rs35098067 0.01229
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_015202.5(KATNIP):c.2516A>G (p.Asp839Gly) rs139475287 0.01223
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) rs115477764 0.01222
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731 0.01214
NM_079834.4(SCAMP4):c.-41-2384C>T rs139117131 0.01214
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp) rs41268685 0.01191
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=) rs113646094 0.01182
NM_001080512.3(BICC1):c.2132A>C (p.Asn711Thr) rs138916713 0.01178
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_007055.4(POLR3A):c.2247+27C>T rs143228905 0.01170
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_018965.4(TREM2):c.*73G>A rs2234258 0.01125
NM_001256715.1(DNAAF3):c.-174C>T rs73066642 0.01124
NM_000257.4(MYH7):c.-36C>T rs45497293 0.01123
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01123
NM_004046.6(ATP5F1A):c.667A>G (p.Ile223Val) rs77958705 0.01119
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937 0.01118
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873 0.01114
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_001360.3(DHCR7):c.*119G>A rs151230950 0.01111
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000142.5(FGFR3):c.2169-33G>A rs3135899 0.01105
NM_004535.3(MYT1):c.2760C>T (p.Ala920=) rs142974950 0.01105
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632 0.01104
NM_002032.3(FTH1):c.*389A>G rs1801327 0.01102
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=) rs150830358 0.01081
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001271696.3(ABCB7):c.246+1G>A rs61323727 0.01077
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_000233.4(LHCGR):c.610C>T (p.Leu204=) rs61996322 0.01070
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys) rs41274090 0.01060
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_004960.4(FUS):c.833-29C>T rs72550862 0.01058
NM_002633.3(PGM1):c.247-5664G>A rs77043134 0.01056
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_212482.4(FN1):c.7362+62C>G rs114497844 0.01054
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_052867.4(NALCN):c.515+7G>A rs41281142 0.01052
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000718.4(CACNA1B):c.1470C>T (p.Cys490=) rs78326958 0.01051
NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly) rs28399976 0.01049
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_001305581.2(LRMDA):c.132-253012del rs146123023 0.01042
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 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_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp) rs117576908 0.01035
NM_033419.5(PGAP3):c.422C>G (p.Ala141Gly) rs35464006 0.01035
NM_177438.3(DICER1):c.-45-4405C>T rs140969547 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384 0.01028
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051 0.01025
NM_004076.5(CRYBB3):c.567G>A (p.Pro189=) rs144842183 0.01025
NM_001170629.2(CHD8):c.3307+86T>C rs116904182 0.01023
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001374426.1(PEX10):c.-321+994C>G rs111413105 0.01014
NM_005245.4(FAT1):c.11155G>A (p.Val3719Met) rs35670235 0.01013
NM_000428.3(LTBP2):c.*2684A>G rs74384554 0.01012
NM_007186.6(CEP250):c.3967G>A (p.Ala1323Thr) rs114063154 0.01012
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_000551.4(VHL):c.340+648T>C rs73024533 0.01009
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_014363.6(SACS):c.-219A>G rs74495070 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_001510.4(GRID2):c.855G>A (p.Arg285=) rs75225211 0.01001
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_153610.5(CMYA5):c.5174C>T (p.Ser1725Leu) rs17254174 0.01000
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830 0.00998
NM_001025195.2(CES1):c.431G>A (p.Gly144Glu) rs71647871 0.00998
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser) rs34951517 0.00996
NM_000123.4(ERCC5):c.-200G>C rs76752300 0.00995
NM_198060.4(NRAP):c.984C>T (p.Leu328=) rs34652635 0.00995
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_003560.4(PLA2G6):c.1743-137G>A rs55679135 0.00993
NM_181523.3(PIK3R1):c.*3C>T rs41268435 0.00989
NM_001080472.4(FITM2):c.96G>A (p.Met32Ile) rs148377517 0.00988
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_001199563.2(BVES):c.842T>C (p.Leu281Pro) rs41285458 0.00986
NM_000894.3(LHB):c.45G>A (p.Met15Ile) rs34247911 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_198241.3(EIF4G1):c.4383C>T (p.Phe1461=) rs111921843 0.00983
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_014314.4(RIGI):c.212G>A (p.Arg71His) rs72710678 0.00981
NM_020461.4(TUBGCP6):c.681C>T (p.Asp227=) rs147321582 0.00981
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) rs144147445 0.00980
NM_002067.5(GNA11):c.736-6C>T rs116848044 0.00980
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_001386125.1(OBSCN):c.8610C>G (p.Thr2870=) rs185248802 0.00977
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=) rs35134741 0.00977
NM_001301071.2(DOK7):c.1620C>T (p.Pro540=) rs143778632 0.00976
NM_016341.4(PLCE1):c.2124G>A (p.Val708=) rs61751496 0.00975
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_002661.5(PLCG2):c.82A>T (p.Met28Leu) rs61749044 0.00973
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_019032.6(ADAMTSL4):c.2121G>A (p.Ala707=) rs41317525 0.00968
NM_006206.6(PDGFRA):c.*2504C>T rs149631103 0.00967
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_002473.6(MYH9):c.*243C>T rs136201 0.00965
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00963
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr) rs61746722 0.00962
NM_024580.6(EFL1):c.2641C>A (p.Pro881Thr) rs72749532 0.00962
NM_001005741.3(GBA1):c.-68-135A>G rs188978150 0.00961
NM_005666.4(CFHR2):c.595G>T (p.Glu199Ter) rs41257904 0.00960
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) rs61744200 0.00956
NM_004525.3(LRP2):c.1172-8G>A rs115371758 0.00955
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_005245.4(FAT1):c.12653A>G (p.Asp4218Gly) rs72716244 0.00950
NM_000718.4(CACNA1B):c.967-11C>G rs12115468 0.00949
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130 0.00949
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_001042413.2(GLIS3):c.171C>T (p.Asn57=) rs117802495 0.00947
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00947
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=) rs59844753 0.00947
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_016373.4(WWOX):c.885G>A (p.Arg295=) rs79771882 0.00946
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_003738.5(PTCH2):c.90G>A (p.Leu30=) rs45573433 0.00945
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_012096.3(APPL1):c.36G>C (p.Thr12=) rs79282761 0.00944
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_005876.5(SPEG):c.7200C>A (p.Val2400=) rs62191887 0.00942
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_004793.4(LONP1):c.2023G>C (p.Val675Leu) rs151025018 0.00940
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_199355.4(ADAMTS18):c.35C>G (p.Pro12Arg) rs200952997 0.00932
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_015268.4(DNAJC13):c.2292-6G>A rs35575948 0.00927
NM_021939.4(FKBP10):c.917+53G>T rs141387386 0.00927
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_006182.4(DDR2):c.699C>T (p.Thr233=) rs56351141 0.00925
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_003235.5(TG):c.199G>A (p.Gly67Ser) rs116340633 0.00924
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=) rs371202740 0.00922
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_001160372.4(TRAPPC9):c.456C>T (p.Ile152=) rs61740786 0.00921
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_001291088.2(WDR87):c.6539G>A (p.Arg2180Gln) rs112783899 0.00920
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys) rs199720608 0.00920
NM_000151.4(G6PC1):c.-77G>A rs145752565 0.00919
NM_000024.6(ADRB2):c.491C>T (p.Thr164Ile) rs1800888 0.00918
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00917
NM_001204.7(BMPR2):c.-301G>A rs116154690 0.00917
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829 0.00916
NM_001165963.4(SCN1A):c.3705+33T>G rs76743139 0.00915
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_005631.5(SMO):c.384C>T (p.Ala128=) rs45571737 0.00913
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_000245.4(MET):c.2888-85C>T rs35307741 0.00909
NM_004826.4(ECEL1):c.426C>A (p.Asp142Glu) rs144928688 0.00909
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00906
NM_182961.4(SYNE1):c.2892+21A>G rs148626610 0.00906
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu) rs112433249 0.00905
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) rs11992497 0.00903
NM_022047.4(DEF6):c.859A>C (p.Asn287His) rs61734579 0.00903
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_005087.4(FXR1):c.753C>T (p.Thr251=) rs73176330 0.00902
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_181078.3(IL21R):c.-17+563G>A rs117535117 0.00901
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_001005388.3(NFASC):c.476C>T (p.Thr159Met) rs3795564 0.00899
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) rs116107386 0.00898
NM_004560.4(ROR2):c.-91G>A rs141262722 0.00898
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_001170629.2(CHD8):c.1437C>T (p.Asn479=) rs61744173 0.00897
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_001361.5(DHODH):c.573G>A (p.Ala191=) rs148523165 0.00894
NM_000136.3(FANCC):c.*96A>G rs55687573 0.00893
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
UGT1A1*6 rs4148323 0.00891
NM_002016.2(FLG):c.5638C>A (p.His1880Asn) rs149817134 0.00890
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu) rs141909783 0.00888
NM_031433.4(MFRP):c.1374G>T (p.Leu458Phe) rs145881139 0.00888
NM_198075.4(LRRC56):c.1356T>G (p.Pro452=) rs138194233 0.00888
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001346754.2(PIGW):c.705C>G (p.His235Gln) rs61755368 0.00885
NM_020877.5(DNAH2):c.2648C>T (p.Ser883Leu) rs118057786 0.00885
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_198075.4(LRRC56):c.655G>A (p.Val219Met) rs138291757 0.00885
NM_000875.5(IGF1R):c.1686G>A (p.Val562=) rs2228531 0.00884
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_023037.3(FRY):c.3958G>A (p.Ala1320Thr) rs138780336 0.00884
CYP2D6*6 rs5030655 0.00883
NM_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
NM_001104631.2(PDE4D):c.809-124C>A rs16889108 0.00881
NM_016529.6(ATP8A2):c.2278G>A (p.Val760Met) rs35540339 0.00881
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321 0.00878
NM_015412.4(NEPRO):c.397G>A (p.Glu133Lys) rs147762157 0.00878
NM_015135.3(NUP205):c.786C>T (p.Gly262=) rs12707242 0.00877
NM_024298.5(MBOAT7):c.1364G>A (p.Arg455Gln) rs79199039 0.00877
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465 0.00876
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile) rs139105452 0.00876
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_004924.6(ACTN4):c.369C>T (p.Gly123=) rs140381330 0.00875
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875 0.00869
NM_004035.7(ACOX1):c.921G>A (p.Arg307=) rs79677613 0.00869
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_004278.4(PIGL):c.*254T>C rs144070256 0.00867
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_178822.5(IGSF10):c.4146C>T (p.Ala1382=) rs139390686 0.00860
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr) rs3087450 0.00858
NM_001142459.2(ASB10):c.1272G>A (p.Ser424=) rs104886486 0.00856
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_014003.4(DHX38):c.1116+3G>A rs17287146 0.00856
NM_080424.4(SP110):c.1447G>A (p.Gly483Arg) rs149485401 0.00856
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_013336.4(SEC61A1):c.1398C>T (p.Ser466=) rs11926533 0.00854
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln) rs142136104 0.00853
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_024577.4(SH3TC2):c.*10864G>A rs189701174 0.00853
NM_033310.3(KCNK4):c.492G>A (p.Pro164=) rs2232415 0.00853
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_003816.3(ADAM9):c.1071C>T (p.His357=) rs61753674 0.00852
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00851
NM_018648.4(NOP10):c.34G>C (p.Asp12His) rs146261631 0.00851
NM_001510.4(GRID2):c.1203T>C (p.Leu401=) rs80091080 0.00850
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000546.6(TP53):c.*1175A>C rs78378222 0.00849
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_000283.4(PDE6B):c.928-175G>A rs116353162 0.00847
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_173483.4(CYP4F22):c.177C>T (p.Phe59=) rs118091316 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_002510.3(GPNMB):c.1663G>T (p.Glu555Ter) rs11537976 0.00846
NM_015874.6(RBPJ):c.1284C>T (p.Thr428=) rs34869653 0.00846
NM_016648.4(LARP7):c.651G>C (p.Glu217Asp) rs141178932 0.00846
NM_130398.4(EXO1):c.2276G>A (p.Gly759Glu) rs4150001 0.00846
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) rs139099911 0.00845
NM_003661.4(APOL1):c.-20+739C>T rs139494181 0.00845
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_001038.6(SCNN1A):c.*296C>T rs55981728 0.00844
NM_001252024.2(TRPM1):c.4744G>A (p.Val1582Met) rs61734295 0.00844
NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=) rs150362958 0.00844
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=) rs72918350 0.00844
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) rs200353947 0.00844
NM_001253697.2(ERBIN):c.355A>G (p.Ile119Val) rs61758158 0.00843
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00842
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_001162498.3(LPAR6):c.921G>T (p.Trp307Cys) rs17071686 0.00841
NM_005544.3(IRS1):c.2452G>C (p.Gly818Arg) rs41265094 0.00841
NM_006979.3(SLC39A7):c.160T>C (p.Phe54Leu) rs76929655 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_001409.4(MEGF6):c.854-4C>A rs192309515 0.00838
NM_012342.3(BAMBI):c.622G>A (p.Val208Ile) rs72809669 0.00838
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) rs79723119 0.00834
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser) rs138288952 0.00834
NM_003502.4(AXIN1):c.2186+7C>T rs189357878 0.00833
NM_004336.5(BUB1):c.432G>A (p.Gln144=) rs1801636 0.00833
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_014049.5(ACAD9):c.150+87C>T rs111805092 0.00832
NM_020987.5(ANK3):c.2615-6882A>G rs41283526 0.00832
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_033100.4(CDHR1):c.2041-15G>A rs61867367 0.00830
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_033124.5(CCDC65):c.1021G>T (p.Asp341Tyr) rs117646559 0.00829
NM_000254.3(MTR):c.-151C>T rs41305572 0.00828
NM_001085377.2(MCC):c.2143G>C (p.Gly715Arg) rs151039584 0.00828
NM_020921.4(NIN):c.4674G>A (p.Thr1558=) rs45578537 0.00828
NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser) rs28371717 0.00827
NM_000391.4(TPP1):c.1076-18A>G rs78676565 0.00826
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His) rs116784674 0.00826
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216 0.00825
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_015459.5(ATL3):c.1434A>G (p.Gly478=) rs189119869 0.00825
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_018136.5(ASPM):c.*158T>C rs41265225 0.00824
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg) rs78925077 0.00824
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421 0.00824
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_004715.5(CTDP1):c.213G>C (p.Gly71=) rs201234471 0.00821
NM_004525.3(LRP2):c.2175C>T (p.Thr725=) rs141180155 0.00820
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=) rs61754536 0.00819
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_021620.4(PRDM13):c.609C>T (p.Ser203=) rs183537963 0.00817
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met) rs140447165 0.00815
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_024656.4(COLGALT1):c.273C>T (p.Asp91=) rs118174667 0.00814
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_003470.3(USP7):c.2907G>A (p.Thr969=) rs61731196 0.00813
NM_019032.6(ADAMTSL4):c.803C>T (p.Ser268Phe) rs41317517 0.00813
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_022081.6(HPS4):c.1962C>T (p.Ala654=) rs9625029 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_002016.2(FLG):c.1741A>T (p.Thr581Ser) rs145627745 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) rs147593839 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_198576.4(AGRN):c.5223C>T (p.Gly1741=) rs147681220 0.00805
NM_002016.2(FLG):c.6220G>C (p.Glu2074Gln) rs141120727 0.00804
NM_138477.4(CDAN1):c.-14G>A rs190314153 0.00804
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_001267052.2(UNC45B):c.1130A>G (p.Lys377Arg) rs41389545 0.00803
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) rs139132509 0.00802
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_018263.6(ASXL2):c.3224G>A (p.Arg1075Gln) rs62130126 0.00802
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_133497.4(KCNV2):c.849G>A (p.Glu283=) rs17656693 0.00801
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_015073.3(SIPA1L3):c.848C>T (p.Ala283Val) rs141958728 0.00800
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NC_000003.12:g.81761728C>T rs13072461 0.00798
NM_001437.3(ESR2):c.1323T>C (p.Ile441=) rs60101369 0.00798
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001372106.1(DNAH10):c.6040G>A (p.Val2014Met) rs75173589 0.00796
NM_001386125.1(OBSCN):c.19980T>A (p.Ser6660Arg) rs144372515 0.00796
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_000245.4(MET):c.2730+285G>A rs116921956 0.00794
NM_001457.4(FLNB):c.3771G>A (p.Pro1257=) rs146851485 0.00794
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439 0.00793
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497 0.00793
NM_176811.2(NLRP8):c.142G>A (p.Val48Met) rs61738689 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_152657.4(GGN):c.593C>T (p.Pro198Leu) rs183879202 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_001797.4(CDH11):c.1424C>T (p.Ala475Val) rs141063325 0.00790
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile) rs34564141 0.00790
NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser) rs145614612 0.00790
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_015909.4(NBAS):c.1093G>C (p.Asp365His) rs76459791 0.00787
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_002900.3(RBP3):c.1037G>A (p.Arg346His) rs111245635 0.00786
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_005932.4(MIPEP):c.1977C>T (p.Ala659=) rs73158528 0.00786
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001277313.2(FMN1):c.2044-1818A>G rs74655292 0.00784
NM_003105.6(SORL1):c.3295T>C (p.Phe1099Leu) rs146903951 0.00784
NM_005245.4(FAT1):c.4754C>T (p.Thr1585Met) rs111886222 0.00784
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_001374736.1(DST):c.20997G>A (p.Leu6999=) rs187652380 0.00781
NM_001481.3(GAS8):c.833G>A (p.Arg278His) rs117053233 0.00781
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381 0.00781
NM_003107.3(SOX4):c.1215G>C (p.Leu405=) rs147615017 0.00780
NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe) rs56168869 0.00780
NM_001142864.4(PIEZO1):c.6219C>T (p.Tyr2073=) rs61745850 0.00779
NM_005505.5(SCARB1):c.21G>C (p.Ala7=) rs199966909 0.00778
NM_014861.4(ATP2C2):c.2482-2A>C rs4782970 0.00777
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_001079802.2(FKTN):c.*5578G>A rs41277801 0.00776
NM_003268.6(TLR5):c.1930A>T (p.Ile644Phe) rs5744175 0.00776
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_000037.4(ANK1):c.*1708G>C rs182454354 0.00775
NM_000382.3(ALDH3A2):c.*36G>A rs138462610 0.00775
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001080477.4(TENM3):c.1763G>C (p.Gly588Ala) rs147269509 0.00775
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_002113.3(CFHR1):c.790+1G>A rs140799744 0.00774
NM_005245.4(FAT1):c.3803G>A (p.Arg1268Gln) rs113970444 0.00774
NM_018194.6(HHAT):c.1146C>T (p.Tyr382=) rs145923092 0.00774
NM_003268.6(TLR5):c.2537A>G (p.Asp846Gly) rs5744177 0.00773
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_001550.4(IFRD1):c.213T>A (p.Leu71=) rs117086064 0.00772
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_144997.7(FLCN):c.-176G>A rs117215381 0.00772
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=) rs45506098 0.00771
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) rs769938205 0.00770
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser) rs17220206 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_014208.3(DSPP):c.2012G>A (p.Ser671Asn) rs200839637 0.00769
NM_014290.3(TDRD7):c.1800T>C (p.Cys600=) rs12552100 0.00769
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_052865.4(MGME1):c.794C>T (p.Thr265Ile) rs76599088 0.00768
NM_007085.5(FSTL1):c.804C>T (p.Asp268=) rs139355917 0.00767
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_015401.5(HDAC7):c.699C>T (p.Leu233=) rs141182137 0.00766
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=) rs117289001 0.00762
NM_002393.5(MDM4):c.222A>T (p.Val74=) rs61749329 0.00762
NM_015459.5(ATL3):c.978+7dup rs528012262 0.00762
NM_016139.4(CHCHD2):c.5C>T (p.Pro2Leu) rs142444896 0.00762
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_001300.6(KLF6):c.603G>A (p.Arg201=) rs112847236 0.00761
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_015341.5(NCAPH):c.1150G>A (p.Val384Ile) rs61754144 0.00761
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_001008536.2(TCHHL1):c.2244T>C (p.Asp748=) rs140803281 0.00759
NM_001853.4(COL9A3):c.147+219G>A rs535876836 0.00759
NM_014889.4(PITRM1):c.2647C>T (p.Leu883Phe) rs71477812 0.00759
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_001331076.1(GPR142):c.807C>A (p.Ala269=) rs140023314 0.00758
NM_001371928.1(AHDC1):c.1326C>T (p.Gly442=) rs188125472 0.00758
NM_002296.4(LBR):c.90C>T (p.His30=) rs2230416 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_018417.6(ADCY10):c.2565G>A (p.Lys855=) rs115709018 0.00757
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_001360.3(DHCR7):c.-195G>T rs141057811 0.00755
NM_001396959.1(TBC1D1):c.980G>A (p.Arg327Lys) rs112261209 0.00755
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_021076.4(NEFH):c.1740C>T (p.Ser580=) rs114263951 0.00755
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_032538.3(TTBK1):c.2820C>T (p.Asn940=) rs55950221 0.00755
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540 0.00755
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_002949.4(MRPL12):c.133T>C (p.Cys45Arg) rs112518314 0.00754
NM_001098816.3(TENM4):c.6234C>T (p.Asn2078=) rs139879711 0.00753
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr) rs41278954 0.00753
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382 0.00753
NM_139119.3(YY1AP1):c.-60T>C rs143953255 0.00752
NM_001369268.1(ACAN):c.438G>A (p.Leu146=) rs35600223 0.00751
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=) rs35871586 0.00751
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_000231.3(SGCG):c.-6T>C rs141771521 0.00749
NM_000875.5(IGF1R):c.2700C>T (p.Asn900=) rs56400113 0.00749
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_206996.4(SPAG17):c.3177T>C (p.Phe1059=) rs144455655 0.00745
NM_001374736.1(DST):c.13820C>A (p.Pro4607His) rs138967674 0.00744
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=) rs41287094 0.00742
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00742
NM_031418.4(ANO3):c.2811C>T (p.Asp937=) rs117748217 0.00742
NM_080759.6(DACH1):c.1722+6C>T rs192675802 0.00741
NM_005631.5(SMO):c.808G>A (p.Val270Ile) rs111694017 0.00740
NM_016292.3(TRAP1):c.1406G>A (p.Arg469His) rs144787542 0.00740
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe) rs113259170 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_000122.2(ERCC3):c.*29C>T rs4150523 0.00736
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_020442.6(VARS2):c.1670C>A (p.Ala557Asp) rs55822421 0.00736
NM_021926.4(ALX4):c.63C>T (p.Tyr21=) rs61737298 0.00736
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys) rs182257230 0.00733
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_032588.4(TRIM63):c.135G>C (p.Arg45=) rs61760891 0.00733
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg) rs56394458 0.00732
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_004425.4(ECM1):c.1100A>T (p.Asp367Val) rs151102225 0.00732
NC_000017.11:g.50165951C>A rs75145501 0.00730
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_016122.3(CEP83):c.408T>C (p.Asn136=) rs148769208 0.00729
NM_020247.5(COQ8A):c.*349G>A rs113041399 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_018245.3(OGDHL):c.1861+7T>C rs41281981 0.00728
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_018718.3(CEP41):c.423-293G>A rs192743446 0.00725
NM_020169.4(LXN):c.143G>A (p.Arg48Lys) rs115108034 0.00725
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_003126.4(SPTA1):c.3037-14T>C rs142102801 0.00723
NM_014159.7(SETD2):c.557C>T (p.Pro186Leu) rs78759480 0.00723
NM_025145.7(CFAP43):c.4624C>G (p.Leu1542Val) rs117628923 0.00723
NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu) rs61735441 0.00722
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787 0.00720
NM_001372106.1(DNAH10):c.2172A>G (p.Gln724=) rs118049936 0.00720
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_001127511.3(APC):c.-152C>T rs138386816 0.00719
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00719
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_003667.4(LGR5):c.2341C>G (p.Pro781Ala) rs113809442 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001379500.1(COL18A1):c.3352G>A (p.Ala1118Thr) rs113268527 0.00717
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_021953.4(FOXM1):c.1182G>C (p.Ser394=) rs28990714 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp) rs138007679 0.00716
NM_000337.6(SGCD):c.*822C>T rs78615220 0.00715
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285 0.00715
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) rs2307298 0.00713
NM_002204.4(ITGA3):c.2827A>G (p.Arg943Gly) rs141893882 0.00713
NM_006121.4(KRT1):c.762G>A (p.Ser254=) rs2741155 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000260.4(MYO7A):c.*392A>G rs144527614 0.00712
NM_003268.6(TLR5):c.1459C>A (p.Leu487Ile) rs5744171 0.00712
NM_000810.4(GABRA5):c.1017C>T (p.Ala339=) rs41317330 0.00711
NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys) rs75125670 0.00711
NM_015072.5(TTLL5):c.1773C>T (p.Val591=) rs61741261 0.00711
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=) rs142744007 0.00709
NM_207034.2(EDN3):c.-248G>A rs542818479 0.00709
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_003243.5(TGFBR3):c.2329C>T (p.Pro777Ser) rs2228363 0.00708
NM_201378.4(PLEC):c.71-11718C>T rs190222339 0.00708
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_001134831.2(AHI1):c.2962-16A>G rs41287056 0.00707
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_020964.3(EPG5):c.1399C>T (p.Leu467=) rs145998030 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_170754.4(TNS2):c.3352A>G (p.Thr1118Ala) rs117152710 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_017646.6(TRIT1):c.623C>T (p.Thr208Met) rs34889376 0.00704
NM_021814.5(ELOVL5):c.246+3891C>T rs150583340 0.00704
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153 0.00704
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_012398.3(PIP5K1C):c.1966G>A (p.Ala656Thr) rs35014191 0.00703
NM_001368882.1(COL13A1):c.754G>A (p.Glu252Lys) rs41277962 0.00702
NM_004316.4(ASCL1):c.123A>G (p.Ala41=) rs558732328 0.00702
NM_024608.4(NEIL1):c.434+2T>C rs5745908 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_001387430.1(SH2B1):c.1988C>T (p.Ala663Val) rs190981290 0.00699
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_170665.4(ATP2A2):c.-10C>G rs201929640 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_022100.3(MRPS14):c.351T>C (p.His117=) rs36081614 0.00695
NM_032387.5(WNK4):c.3610C>T (p.Arg1204Cys) rs56116165 0.00695
NM_021784.5(FOXA2):c.298G>C (p.Ala100Pro) rs201350646 0.00694
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
NM_001191057.4(PDE1C):c.1726G>C (p.Val576Leu) rs61736729 0.00693
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_198334.3(GANAB):c.925C>T (p.Arg309Cys) rs1063445 0.00691
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=) rs17778478 0.00691
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_173503.4(EFCAB3):c.295C>T (p.Arg99Ter) rs61751980 0.00690
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro) rs149252987 0.00689
NM_001035.3(RYR2):c.8715-30G>A rs114806261 0.00689
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_003737.4(DCHS1):c.6479C>T (p.Thr2160Ile) rs113091644 0.00689
NM_173685.4(NSMCE2):c.418+27C>T rs146237502 0.00689
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp) rs145286619 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_001085377.2(MCC):c.1902G>A (p.Ala634=) rs35555142 0.00687
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_017852.5(NLRP2):c.1075T>C (p.Phe359Leu) rs62124644 0.00686
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met) rs61757218 0.00685
NM_002936.6(RNASEH1):c.702A>G (p.Ala234=) rs143510329 0.00685
NM_005996.4(TBX3):c.61C>T (p.Leu21=) rs142592809 0.00685
NM_145292.4(GALNTL5):c.586G>A (p.Val196Ile) rs75797831 0.00685
NM_001378778.1(MPDZ):c.325G>T (p.Gly109Cys) rs61753782 0.00684
NM_005173.4(ATP2A3):c.2148C>T (p.Ile716=) rs148008479 0.00684
NM_000525.4(KCNJ11):c.*766G>A rs193101892 0.00683
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_004933.3(CDH15):c.2025G>A (p.Pro675=) rs62068507 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_024867.4(SPEF2):c.3802-8G>A rs138022749 0.00682
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_001277058.2(ERCC6):c.2157C>T (p.Ser719=) rs41281955 0.00681
NM_001720.5(BMP8B):c.1059+579A>G rs192079535 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) rs34114147 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000035.4(ALDOB):c.-214G>A rs185972191 0.00678
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_032536.4(NTNG2):c.134G>A (p.Arg45His) rs56128215 0.00678
NM_001005242.3(PKP2):c.*48dup rs369140281 0.00677
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236 0.00677
NM_015466.4(PTPN23):c.3388G>A (p.Gly1130Ser) rs138329311 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_004736.4(XPR1):c.819G>T (p.Arg273=) rs144546884 0.00675
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467 0.00675
NM_173598.6(KSR2):c.1661G>A (p.Arg554Gln) rs56214831 0.00675
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00674
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_001039141.3(TRIOBP):c.2234G>A (p.Arg745Lys) rs150690007 0.00672
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001193313.2(SUGCT):c.1226C>T (p.Thr409Met) rs192063213 0.00672
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr) rs147445258 0.00672
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_001916.5(CYC1):c.960A>C (p.Ala320=) rs35387134 0.00671
NM_004836.6(EIF2AK3):c.-201A>G rs144057685 0.00671
NM_014417.5(BBC3):c.*23C>T rs202031784 0.00671
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_018993.4(RIN2):c.84C>T (p.Ile28=) rs181853315 0.00670
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_000416.3(IFNGR1):c.489C>T (p.Pro163=) rs41288981 0.00668
NM_003734.4(AOC3):c.986G>A (p.Arg329Gln) rs2229595 0.00668
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_000876.4(IGF2R):c.6657C>T (p.Asp2219=) rs8191933 0.00667
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_005807.6(PRG4):c.3879T>C (p.Tyr1293=) rs138093894 0.00667
NM_025103.4(IFT74):c.1735G>A (p.Val579Met) rs138591335 0.00667
NM_005097.4(LGI1):c.216-55T>C rs143132529 0.00666
NM_006415.4(SPTLC1):c.*124A>G rs189582528 0.00666
NM_032608.7(MYO18B):c.7389T>C (p.Gly2463=) rs185466872 0.00666
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_001077525.3(MTMR14):c.1386T>C (p.Tyr462=) rs148229439 0.00665
NM_014208.3(DSPP):c.3204T>C (p.Asp1068=) rs370264407 0.00665
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542 0.00665
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_025077.4(TOE1):c.1176G>A (p.Leu392=) rs149142910 0.00664
NM_000210.4(ITGA6):c.2247C>G (p.Val749=) rs61748247 0.00663
NM_001942.4(DSG1):c.2115C>T (p.Tyr705=) rs146192657 0.00663
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_005761.3(PLXNC1):c.1821G>A (p.Ala607=) rs114617018 0.00663
NM_000934.4(SERPINF2):c.1107C>T (p.Ser369=) rs148395057 0.00662
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_005428.4(VAV1):c.1980T>C (p.His660=) rs112350637 0.00662
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) rs113984787 0.00662
NM_017636.4(TRPM4):c.306T>G (p.Val102=) rs111783027 0.00662
NM_170606.3(KMT2C):c.7491C>T (p.Arg2497=) rs117187677 0.00662
NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe) rs191149379 0.00662
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_007357.3(COG2):c.708G>A (p.Thr236=) rs34010781 0.00660
NM_001276700.2(NLRP6):c.1958G>C (p.Arg653Pro) rs148388963 0.00659
NM_015072.5(TTLL5):c.3544C>T (p.Leu1182=) rs143302131 0.00659
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_016327.3(UPB1):c.1107C>T (p.Leu369=) rs138691259 0.00658
NM_018451.5(CENPJ):c.*594_*595dup rs570468323 0.00658
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_006842.3(SF3B2):c.76G>T (p.Ala26Ser) rs11554199 0.00657
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_018245.3(OGDHL):c.2201T>C (p.Phe734Ser) rs143105288 0.00657
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=) rs146358566 0.00657
NM_213647.3(FGFR4):c.1002C>T (p.Leu334=) rs55658990 0.00657
NM_000032.4(ALAS2):c.-258C>G rs140772352 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_018417.6(ADCY10):c.2097A>G (p.Ala699=) rs141364875 0.00656
NM_024867.4(SPEF2):c.1262G>A (p.Arg421His) rs139580877 0.00656
NM_002144.4(HOXB1):c.246G>A (p.Ser82=) rs145345040 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_001042545.2(LTBP4):c.135C>T (p.Cys45=) rs185400394 0.00654
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_032447.5(FBN3):c.3875A>G (p.Asp1292Gly) rs146679363 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_001177693.2(ARHGEF28):c.1862G>A (p.Arg621Gln) rs115243197 0.00652
NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) rs117064827 0.00652
NM_015897.4(PIAS4):c.369C>T (p.Pro123=) rs144565099 0.00652
NM_033554.4(HLA-DPA1):c.662C>T (p.Thr221Met) rs56046206 0.00652
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503 0.00651
NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=) rs116964444 0.00651
NM_003268.6(TLR5):c.2493A>G (p.Lys831=) rs75283814 0.00651
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_033305.3(VPS13A):c.8472-12C>T rs115077471 0.00651
NM_138295.5(PKD1L1):c.2675+4C>T rs143005953 0.00651
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly) rs45560241 0.00650
NM_001082971.2(DDC):c.436-12T>C rs144962948 0.00650
NM_001116.4(ADCY9):c.2994C>T (p.Arg998=) rs143722912 0.00650
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001282933.2(ZNF341):c.672T>C (p.Ala224=) rs73094865 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_000786.4(CYP51A1):c.1309C>T (p.Pro437Ser) rs59683852 0.00649
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_020526.5(EPHA8):c.631C>T (p.Leu211=) rs56193119 0.00649
NM_033026.6(PCLO):c.943C>G (p.Pro315Ala) rs61744447 0.00649
NM_003038.5(SLC1A4):c.40G>A (p.Ala14Thr) rs149636167 0.00648
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_002185.5(IL7R):c.*42A>G rs145513117 0.00647
NM_198075.4(LRRC56):c.544C>A (p.Gln182Lys) rs61736743 0.00647
NM_001002814.3(RAB11FIP1):c.2574C>T (p.His858=) rs17362412 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280 0.00646
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_001190274.2(FBXO11):c.*1173A>T rs2020906 0.00645
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_015409.5(EP400):c.5103G>A (p.Pro1701=) rs116870851 0.00645
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_198334.3(GANAB):c.1026G>T (p.Leu342=) rs147084598 0.00645
NM_001256007.3(PNPLA8):c.1971C>T (p.Ser657=) rs34848302 0.00644
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_003737.4(DCHS1):c.1245C>A (p.Ser415Arg) rs117368891 0.00644
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_015401.5(HDAC7):c.603C>T (p.Arg201=) rs61754652 0.00644
NM_144666.3(DNHD1):c.6064G>C (p.Gly2022Arg) rs184654382 0.00644
NM_001031803.2(LLGL2):c.2230G>A (p.Ala744Thr) rs148020757 0.00643
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys) rs78314670 0.00642
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_001372.4(DNAH9):c.10555C>A (p.Pro3519Thr) rs148325223 0.00641
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_020762.4(SRGAP1):c.2624A>G (p.His875Arg) rs61754221 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) rs185755490 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_002317.7(LOX):c.476C>A (p.Pro159Gln) rs41407546 0.00640
NM_012398.3(PIP5K1C):c.1746G>A (p.Ala582=) rs73920193 0.00640
NM_015089.4(CUL9):c.1849G>A (p.Glu617Lys) rs145911635 0.00640
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997 0.00639
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=) rs146781877 0.00639
NM_139017.7(IL31RA):c.54G>A (p.Pro18=) rs140079651 0.00639
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_001128833.2(ZBTB4):c.159C>T (p.Pro53=) rs140340146 0.00638
NM_003775.4(S1PR4):c.285G>A (p.Thr95=) rs34573539 0.00638
NM_199355.4(ADAMTS18):c.3565G>A (p.Val1189Ile) rs61749042 0.00638
NM_206933.4(USH2A):c.12066+4409C>G rs115494070 0.00638
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766 0.00637
NM_020376.4(PNPLA2):c.1149G>A (p.Arg383=) rs150770244 0.00637
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu) rs139294803 0.00637
NM_000160.5(GCGR):c.118G>A (p.Gly40Ser) rs1801483 0.00636
NM_000492.4(CFTR):c.1680-871A>G rs572658447 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772 0.00636
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_024874.5(KIAA0319L):c.871A>G (p.Thr291Ala) rs34372241 0.00636
NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn) rs144245019 0.00636
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_003632.3(CNTNAP1):c.765C>T (p.Gly255=) rs62001916 0.00635
NM_153747.2(PIGC):c.676C>T (p.Arg226Trp) rs34001453 0.00635
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr) rs78763451 0.00634
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_000416.3(IFNGR1):c.42G>A (p.Val14=) rs17181471 0.00633
NM_001371986.1(UNC80):c.3926C>T (p.Thr1309Ile) rs78846221 0.00633
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_000170.3(GLDC):c.2570-22C>G rs200609000 0.00632
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr) rs117555121 0.00632
NM_033004.4(NLRP1):c.1845C>T (p.Ile615=) rs61753140 0.00632
NM_002458.3(MUC5B):c.17043C>T (p.Cys5681=) rs61734215 0.00631
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816 0.00631
NM_015690.5(STK36):c.2516G>A (p.Arg839Gln) rs13023540 0.00631
NM_020708.5(SLC12A5):c.482-5T>C rs147042920 0.00631
NM_024675.3(PALB2):c.-158G>C rs138200248 0.00631
NM_031433.4(MFRP):c.1635G>A (p.Ala545=) rs138370910 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_000066.4(C8B):c.1625C>T (p.Thr542Ile) rs61737417 0.00630
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_001080779.2(MYO1C):c.2574A>C (p.Lys858Asn) rs61753652 0.00630
NM_003737.4(DCHS1):c.6792G>A (p.Thr2264=) rs116909245 0.00630
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_032242.4(PLXNA1):c.3014+4C>T rs147171987 0.00630
NM_000789.4(ACE):c.231G>A (p.Ala77=) rs184457276 0.00629
NM_001128636.4(ELFN1):c.684C>G (p.Gly228=) rs141480773 0.00629
NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro) rs55852620 0.00629
NM_018089.3(ANKZF1):c.1754G>A (p.Arg585Gln) rs189875478 0.00629
NM_018191.4(RCBTB1):c.207A>C (p.Glu69Asp) rs138308390 0.00629
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617 0.00629
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564 0.00627
NM_003922.4(HERC1):c.8088A>G (p.Thr2696=) rs76114496 0.00627
NM_004292.3(RIN1):c.1929C>G (p.Thr643=) rs141977246 0.00627
NM_006614.4(CHL1):c.2923A>T (p.Thr975Ser) rs145162591 0.00627
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_012154.5(AGO2):c.615C>A (p.Ser205=) rs140423429 0.00627
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_183061.3(SLC9C1):c.2958T>A (p.Phe986Leu) rs144423530 0.00626
NM_000363.5(TNNI3):c.-47C>T rs202159627 0.00625
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001130987.2(DYSF):c.*267C>G rs181677134 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001366057.1(OTUD4):c.3003T>A (p.Ala1001=) rs147253069 0.00625
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_002016.2(FLG):c.7387C>G (p.His2463Asp) rs113188294 0.00625
NM_005216.5(DDOST):c.663G>A (p.Gly221=) rs41307775 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_001009931.3(HRNR):c.21C>T (p.Gly7=) rs140649841 0.00624
NM_001378964.1(CDON):c.2051C>G (p.Thr684Ser) rs145983470 0.00624
NM_002458.3(MUC5B):c.15826G>T (p.Val5276Leu) rs55893724 0.00624
NM_003263.4(TLR1):c.2028C>T (p.Gly676=) rs41311400 0.00624
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098 0.00624
NM_000896.3(CYP4F3):c.808G>A (p.Val270Ile) rs28371536 0.00623
NM_001394090.1(CFAP92):c.3281-101G>A rs139199002 0.00623
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_014252.4(SLC25A15):c.-67A>T rs112276566 0.00623
NM_033026.6(PCLO):c.6174A>G (p.Leu2058=) rs147497968 0.00623
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_022821.4(ELOVL1):c.105C>T (p.Leu35=) rs75531338 0.00622
NM_032888.4(COL27A1):c.408C>T (p.Val136=) rs146589272 0.00622
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_002659.4(PLAUR):c.24G>A (p.Pro8=) rs62639324 0.00621
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_007186.6(CEP250):c.6016G>A (p.Asp2006Asn) rs61729988 0.00621
NM_014781.5(RB1CC1):c.3942T>A (p.Asn1314Lys) rs34701924 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile) rs61752020 0.00620
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00619
NM_002742.3(PRKD1):c.1953G>A (p.Thr651=) rs55996071 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_001172501.3(SLC6A2):c.733G>A (p.Val245Ile) rs1805066 0.00618
NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr) rs61751992 0.00618
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_022765.4(MICAL1):c.2062C>A (p.His688Asn) rs41288558 0.00618
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_001370.2(DNAH6):c.7292+6G>A rs193043554 0.00617
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) rs61737971 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_000208.4(INSR):c.3370-15G>A rs41300628 0.00616
NM_005797.4(MPZL2):c.39C>T (p.Leu13=) rs36040758 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_001668.4(ARNT):c.1531G>A (p.Asp511Asn) rs1805133 0.00615
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_017491.5(WDR1):c.1569G>A (p.Ser523=) rs34193855 0.00615
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_144666.3(DNHD1):c.3246G>A (p.Glu1082=) rs118078642 0.00614
NM_152879.3(DGKD):c.2925G>A (p.Glu975=) rs147134923 0.00614
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_005560.6(LAMA5):c.8832C>T (p.Ser2944=) rs142296998 0.00613
NM_014679.5(CEP57):c.333G>C (p.Gln111His) rs117321017 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974 0.00612
NM_015205.3(ATP11A):c.334-6T>A rs41288626 0.00612
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_197947.3(CLEC7A):c.397C>T (p.Leu133=) rs144190589 0.00612
NM_018976.5(SLC38A2):c.474C>T (p.Asn158=) rs36022751 0.00611
NM_022042.4(SLC26A1):c.534C>T (p.Ile178=) rs36095812 0.00611
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_133443.4(GPT2):c.1260G>A (p.Thr420=) rs115072332 0.00610
NM_152325.3(TEX26):c.693G>T (p.Lys231Asn) rs9533168 0.00610
NM_177972.3(TUB):c.1126G>A (p.Val376Ile) rs75594955 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr) rs143796236 0.00609
NM_019613.4(WDR45B):c.942C>T (p.Asp314=) rs147083174 0.00609
NM_021096.4(CACNA1I):c.777G>A (p.Pro259=) rs149938037 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_001009999.3(KDM1A):c.136G>A (p.Gly46Ser) rs144822945 0.00607
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_015601.4(HERC4):c.699T>A (p.Pro233=) rs138028356 0.00607
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599 0.00607
NM_152906.7(TANGO2):c.56+219C>G rs186875212 0.00607
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_001372073.1(PDGFRL):c.408A>G (p.Ala136=) rs34445293 0.00606
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 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_005321.3(H1-4):c.455A>G (p.Lys152Arg) rs2298090 0.00605
NM_005428.4(VAV1):c.835G>A (p.Val279Ile) rs117819421 0.00605
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_138782.3(FCHO2):c.882A>G (p.Gly294=) rs114375833 0.00605
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_001378414.1(HDAC4):c.1692G>A (p.Lys564=) rs114495208 0.00604
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_033305.3(VPS13A):c.6379-17T>G rs373072093 0.00604
NM_178822.5(IGSF10):c.3712A>G (p.Thr1238Ala) rs144316007 0.00604
NM_001010898.4(SLC6A17):c.2036A>G (p.Lys679Arg) rs41313405 0.00603
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn) rs145653077 0.00603
NM_005993.5(TBCD):c.3554T>C (p.Leu1185Pro) rs2292969 0.00603
NM_017950.4(CCDC40):c.2832+466_2832+467del rs570440845 0.00603
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr) rs34973107 0.00602
NM_001407.3(CELSR3):c.4059G>A (p.Gln1353=) rs145229058 0.00602
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_004447.6(EPS8):c.1482T>C (p.Ser494=) rs75560906 0.00602
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_017757.3(ZNF407):c.6007G>A (p.Glu2003Lys) rs150419019 0.00602
NM_206937.2(LIG4):c.*3del rs551263548 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_001670.3(ARVCF):c.1616G>A (p.Arg539Gln) rs16982871 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn) rs56048322 0.00600
NM_032129.3(PLEKHN1):c.331-7C>T rs41285810 0.00600
NM_032802.4(SPPL2A):c.1179C>A (p.Ile393=) rs140457962 0.00600
NM_199355.4(ADAMTS18):c.637C>T (p.Arg213Trp) rs35701343 0.00600
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_022748.12(TNS3):c.3292C>G (p.Leu1098Val) rs188962919 0.00599
NM_030930.4(UNC93B1):c.1724C>A (p.Pro575His) rs535779712 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_053054.4(CATSPER1):c.1544-6C>T rs147398525 0.00598
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075 0.00598
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001035235.4(SRA1):c.58C>G (p.Gln20Glu) rs35610885 0.00597
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00597
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849 0.00597
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909 0.00597
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) rs35537517 0.00597
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557 0.00596
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287 0.00595
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) rs145115262 0.00595
NM_001384125.1(BLTP1):c.14640G>A (p.Leu4880=) rs142747603 0.00595
NM_017827.4(SARS2):c.248C>T (p.Ser83Leu) rs34050897 0.00595
NM_032885.6(ATG4D):c.777C>T (p.Ala259=) rs138606386 0.00595
NM_001292034.3(TAB2):c.1128G>A (p.Thr376=) rs34220315 0.00594
NM_001463.4(FRZB):c.872T>C (p.Met291Thr) rs112094045 0.00594
NM_001080510.5(METTL23):c.496G>A (p.Asp166Asn) rs138247613 0.00593
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_001377299.1(NDUFS2):c.514+11C>T rs76309459 0.00593
NM_006885.4(ZFHX3):c.1753G>A (p.Gly585Ser) rs140602496 0.00593
NM_024490.4(ATP10A):c.3850G>A (p.Ala1284Thr) rs116641809 0.00593
NM_022835.3(PLEKHG2):c.2901G>A (p.Pro967=) rs113732286 0.00592
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_003235.5(TG):c.7539C>T (p.Asp2513=) rs114539802 0.00591
NM_007335.4(DLEC1):c.2613C>T (p.Leu871=) rs190082830 0.00591
NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe) rs72649573 0.00591
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737 0.00590
NM_018557.3(LRP1B):c.11227G>A (p.Gly3743Ser) rs150879175 0.00590
NM_021076.4(NEFH):c.745G>A (p.Gly249Ser) rs60825978 0.00590
NM_024324.5(CRELD2):c.882C>T (p.Cys294=) rs149127584 0.00590
NM_178822.5(IGSF10):c.2852C>A (p.Thr951Lys) rs34197438 0.00590
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_182977.3(NNT):c.2192C>T (p.Thr731Met) rs75710404 0.00588
NM_000843.4(GRM6):c.1953C>T (p.Ala651=) rs62638620 0.00587
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_001277313.2(FMN1):c.1117C>G (p.Leu373Val) rs148331737 0.00587
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=) rs117066889 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_004448.4(ERBB2):c.3647C>A (p.Ala1216Asp) rs55943169 0.00587
NM_016138.5(COQ7):c.492C>T (p.Tyr164=) rs34688983 0.00587
NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly) rs13406336 0.00586
NM_001256071.3(RNF213):c.2838A>G (p.Gln946=) rs72849865 0.00586
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser) rs41285470 0.00586
NM_033225.6(CSMD1):c.8935G>A (p.Gly2979Ser) rs117633452 0.00586
NM_145298.6(APOBEC3F):c.1037A>G (p.Asn346Ser) rs13056825 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_001024613.4(FEZF1):c.253A>G (p.Ser85Gly) rs145467198 0.00585
NM_012143.4(TFIP11):c.23G>A (p.Arg8Gln) rs34764403 0.00585
NM_000271.5(NPC1):c.1554-1016C>T rs145998218 0.00584
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_003796.3(URI1):c.1461A>G (p.Val487=) rs146454221 0.00584
NM_004036.5(ADCY3):c.3096C>T (p.Asn1032=) rs72792178 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_001843.4(CNTN1):c.207C>T (p.Ala69=) rs7297132 0.00583
NM_003907.3(EIF2B5):c.1341G>A (p.Ser447=) rs138857267 0.00583
NM_006012.4(CLPP):c.368-8G>A rs143053584 0.00583
NM_017693.4(BIVM):c.244A>G (p.Ile82Val) rs41281670 0.00583
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp) rs140943896 0.00583
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_005560.6(LAMA5):c.7374C>T (p.Ala2458=) rs146174815 0.00582
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00581
NM_004104.5(FASN):c.2815G>A (p.Glu939Lys) rs142371324 0.00581
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_018082.6(POLR3B):c.1958A>T (p.Asp653Val) rs144161033 0.00581
NM_021738.3(SVIL):c.6213C>T (p.Ser2071=) rs56022643 0.00581
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_001358921.2(COQ2):c.424A>G (p.Thr142Ala) rs144913206 0.00580
NM_001358921.2(COQ2):c.437A>G (p.Asn146Ser) rs150295921 0.00580
NM_003341.5(UBE2E1):c.219C>T (p.Gly73=) rs115996277 0.00580
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_014520.4(MYBBP1A):c.2688C>T (p.Arg896=) rs144506752 0.00580
NM_018897.3(DNAH7):c.9567C>T (p.Ala3189=) rs139963761 0.00580
NM_020987.5(ANK3):c.1047C>T (p.Cys349=) rs117138204 0.00580
NM_001130145.3(YAP1):c.1104C>T (p.Pro368=) rs61749258 0.00579
NM_005631.5(SMO):c.1939C>T (p.Pro647Ser) rs34545616 0.00579
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=) rs1805062 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_005560.6(LAMA5):c.7305C>T (p.Asp2435=) rs142980035 0.00578
NM_153447.4(NLRP5):c.2673G>A (p.Thr891=) rs45624737 0.00578
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_000743.5(CHRNA3):c.564T>C (p.Asp188=) rs8192480 0.00577
NM_001136035.4(TRMT1):c.1554A>G (p.Pro518=) rs148858467 0.00577
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_004218.4(RAB11B):c.12G>A (p.Arg4=) rs2913976 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_014240.3(LIMD1):c.1394A>G (p.Lys465Arg) rs114236922 0.00576
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=) rs149563706 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001558.4(IL10RA):c.21G>C (p.Val7=) rs4252301 0.00575
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe) rs77314619 0.00575
NM_015268.4(DNAJC13):c.2369C>A (p.Ser790Tyr) rs149121829 0.00575
NM_020949.3(SLC7A14):c.2226G>A (p.Arg742=) rs111687384 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_173354.5(SIK1):c.1463-7C>T rs142866662 0.00575
NM_000718.4(CACNA1B):c.2093-4C>A rs76062311 0.00574
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_005141.5(FGB):c.1113A>G (p.Ser371=) rs6057 0.00574
NM_014687.4(RUBCN):c.1971C>T (p.Ala657=) rs148884163 0.00574
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_032538.3(TTBK1):c.1838C>T (p.Pro613Leu) rs34993661 0.00574
NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr) rs61752339 0.00574
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000914.5(OPRM1):c.575G>T (p.Cys192Phe) rs62638690 0.00573
NM_001099772.2(CYP4B1):c.147T>C (p.Pro49=) rs45522235 0.00573
NM_001145263.2(NCOA4):c.686C>T (p.Thr229Ile) rs113955117 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_001013838.3(CARMIL2):c.2597G>A (p.Arg866Gln) rs140263068 0.00572
NM_003823.4(TNFRSF6B):c.465A>G (p.Pro155=) rs41304826 0.00572
NM_005619.5(RTN2):c.1143G>A (p.Ala381=) rs45532933 0.00572
NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser) rs571264557 0.00572
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_016120.4(RLIM):c.777G>A (p.Thr259=) rs148132680 0.00572
NM_033026.6(PCLO):c.14766C>T (p.Ala4922=) rs146099474 0.00572
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_005666.4(CFHR2):c.325A>G (p.Thr109Ala) rs145405649 0.00571
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_145059.3(FCSK):c.484+18T>C rs56366805 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001080483.3(MYMK):c.219G>A (p.Gly73=) rs143433318 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_004341.5(CAD):c.6343G>C (p.Val2115Leu) rs61737365 0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_003105.6(SORL1):c.3346A>G (p.Ile1116Val) rs62617129 0.00569
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_020442.6(VARS2):c.423G>A (p.Met141Ile) rs141408930 0.00569
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_053043.3(RBM33):c.1738-4G>A rs117718054 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_205834.4(LSR):c.150C>T (p.Tyr50=) rs141731488 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001134888.3(RTL1):c.3644G>A (p.Arg1215His) rs61993318 0.00568
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_020971.3(SPTBN4):c.3710C>A (p.Ala1237Asp) rs148009574 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_024666.5(AAGAB):c.329T>A (p.Met110Lys) rs186662479 0.00567
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_006389.5(HYOU1):c.1193A>G (p.Lys398Arg) rs118151170 0.00566
NM_018557.3(LRP1B):c.7420G>A (p.Gly2474Ser) rs146867394 0.00566
NM_024870.4(PREX2):c.2930C>T (p.Ser977Leu) rs61753700 0.00566
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961 0.00566
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_001377334.1(PIK3C2B):c.818C>A (p.Pro273His) rs61740701 0.00565
NM_015147.3(CEP68):c.1698C>T (p.His566=) rs188040350 0.00565
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_001142864.4(PIEZO1):c.2139C>T (p.His713=) rs36067616 0.00564
NM_001166108.2(PALLD):c.3297T>C (p.Tyr1099=) rs114593924 0.00564
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_006035.4(CDC42BPB):c.958C>T (p.Leu320=) rs56158661 0.00564
NM_013391.3(DMGDH):c.1518-4T>A rs72764929 0.00564
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
NM_031313.3(ALPG):c.516T>C (p.His172=) rs113898433 0.00564
NM_153046.3(TDRD9):c.1953G>A (p.Val651=) rs35030451 0.00564
NM_183381.3(RNF13):c.492T>C (p.Tyr164=) rs148516101 0.00564
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000479.5(AMH):c.428C>T (p.Thr143Ile) rs139265145 0.00563
NM_015192.4(PLCB1):c.2309-15A>C rs117816042 0.00563
NM_021076.4(NEFH):c.2757C>T (p.Asp919=) rs56200920 0.00563
NM_173689.7(CRB2):c.278G>A (p.Arg93His) rs138381817 0.00563
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_000939.4(POMC):c.18C>T (p.Cys6=) rs8192605 0.00562
NM_001142864.4(PIEZO1):c.4495+4C>T rs140520334 0.00562
NM_001377304.1(GFI1B):c.238+7C>T rs11793702 0.00562
NM_002844.4(PTPRK):c.485A>G (p.Asn162Ser) rs61757812 0.00562
NM_005862.3(STAG1):c.1402C>T (p.Leu468=) rs34807246 0.00562
NM_020066.5(FMN2):c.2657T>G (p.Met886Arg) rs146874723 0.00562
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_001372106.1(DNAH10):c.8824-5C>T rs183446331 0.00561
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_002332.3(LRP1):c.10179C>T (p.Cys3393=) rs139916336 0.00561
NM_003490.4(SYN3):c.1328G>A (p.Arg443His) rs150768274 0.00561
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388 0.00560
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000876.4(IGF2R):c.6387T>C (p.Pro2129=) rs55987511 0.00560
NM_001005388.3(NFASC):c.1601G>A (p.Arg534Lys) rs56223230 0.00560
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_021628.3(ALOXE3):c.-304G>T rs79377087 0.00560
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773 0.00560
NM_173076.3(ABCA12):c.4225A>G (p.Ile1409Val) rs149610963 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_000296.4(PKD1):c.11534+3_11534+5dup rs201204878 0.00559
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_017905.6(TMCO3):c.1308G>A (p.Pro436=) rs148880361 0.00559
NM_019616.4(F7):c.740-10T>C rs3093266 0.00559
NM_032387.5(WNK4):c.1653C>T (p.Pro551=) rs55751736 0.00559
NM_000062.3(SERPING1):c.751C>T (p.Leu251=) rs35788383 0.00558
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr) rs41307788 0.00558
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=) rs79439293 0.00558
NM_020765.3(UBR4):c.2530A>G (p.Met844Val) rs35444108 0.00558
NM_144639.3(UROC1):c.562C>T (p.Arg188Trp) rs34488036 0.00558
NM_199420.4(POLQ):c.4262_4268del (p.Ile1421fs) rs546221341 0.00558
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_001286577.2(C2CD3):c.3671A>G (p.Gln1224Arg) rs78878933 0.00557
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=) rs149148763 0.00557
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn) rs116988549 0.00557
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_001394062.1(MACF1):c.1916G>T (p.Gly639Val) rs139995582 0.00556
NM_002819.5(PTBP1):c.1119+3A>G rs201755241 0.00556
NM_003638.3(ITGA8):c.483G>A (p.Pro161=) rs72781816 0.00556
NM_004104.5(FASN):c.3306C>G (p.Ala1102=) rs34179714 0.00556
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_012453.4(TBL2):c.996C>T (p.Ala332=) rs146437532 0.00555
NM_014208.3(DSPP):c.1259T>C (p.Val420Ala) rs191967636 0.00555
NM_015047.3(EMC1):c.2886C>T (p.Tyr962=) rs34350799 0.00555
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772 0.00555
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met) rs61736451 0.00554
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_004514.4(FOXK2):c.1644G>A (p.Thr548=) rs148594749 0.00554
NM_144666.3(DNHD1):c.9G>A (p.Pro3=) rs117055865 0.00554
NM_173165.3(NFATC3):c.816G>A (p.Gly272=) rs62636651 0.00554
NM_000718.4(CACNA1B):c.2925G>C (p.Pro975=) rs201396139 0.00553
NM_001080477.4(TENM3):c.1197T>C (p.Pro399=) rs192736990 0.00553
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_003922.4(HERC1):c.13716C>T (p.Leu4572=) rs61751108 0.00553
NM_015065.3(EXPH5):c.1568A>G (p.His523Arg) rs12146512 0.00553
NM_001014437.3(CARS1):c.1024G>A (p.Gly342Ser) rs117234242 0.00552
NM_003292.3(TPR):c.1399C>A (p.Arg467=) rs114751429 0.00552
NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly) rs137926425 0.00552
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245