ClinVar Miner

Variants reported as risk factor

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Gene type:
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Total variants: 949
Total variants unanimously reported as risk factor: 551

Breakdown by submitter #

Total submitters: 31
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Submitter Variants
OMIM 899
Invitae 10
Daryl Scott Lab,Baylor College of Medicine 7
Flinders Ophthalmology,Flinders University 5
Beijing Municipal Key Laboratory,Capital Institute of Pediatrics 4
Laboratorio di Genetica e Neuroscienze,Istituto Giannina Gaslini 4
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 3
Blueprint Genetics, 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3
Department of Zoology,University of the Punjab, Lahore 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 2
Institute for Medical Genetics and Human Genetics,Charité - Universitätsmedizin Berlin 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2
Center of Vascular Surgery,The Second Affiliated Hospital of Nanchang University 2
Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch,National Institutes of Health 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1
GeneDx 1
GeneReviews 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1
GeneKor MSA 1
Russ Altman Lab,Stanford University 1
Australian Red Cross Blood Service 1
Laboratorio de Biomedicina,Instituto de Biotecnología de Misiones 1
Division of Host Defense,Kyushu University 1
Shworak lab,George Washington University 1
Snyder Lab, Genetics Department,Stanford University 1
True Health Diagnostics 1
The Spine Surgery of The First Affiliated Hospital,Sun Yat-sen University 1
Laboratory of Immunology and Cellular Biotechnologies,Immanuel Kant Baltic Federal University 1
GenHotel - European Research Laboratory for Rheumatoid Arthritis,University of Paris Saclay 1
University of Washington Department of Laboratory Medicine,University of Washington 1

Breakdown by condition #

Total conditions: 480
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Condition Variants
Diabetes mellitus type 2 24
Cutaneous malignant melanoma 2 19
Breast cancer, susceptibility to 17
Malignant hyperthermia, susceptibility to, 1 17
Hirschsprung disease 1 16
Myocardial infarction 13
Hypogonadotropic hypogonadism 2 with anosmia 12
Neural tube defects, susceptibility to 11
Atypical hemolytic-uremic syndrome 1 9
Parkinson disease, late-onset 9
Pheochromocytoma, susceptibility to 9
Autism, susceptibility to, 18 8
Melanoma, cutaneous malignant, susceptibility to, 10 8
Neural tube defect 8
Obesity 8
Schizophrenia 4 8
Systemic lupus erythematosus, susceptibility to 8
Amyotrophic lateral sclerosis, susceptibility to 7
Breast-ovarian cancer, familial 3 7
Congenital diaphragmatic hernia 7
Age-related macular degeneration 4 6
Alzheimer disease, susceptibility to 6
Asthma, susceptibility to 6
Atypical hemolytic-uremic syndrome 2 6
Atypical hemolytic-uremic syndrome 3 6
Breast-ovarian cancer, familial 4 6
Herpes simplex encephalitis 2 6
Hirschsprung disease 2 6
Hyperlipidemia, familial combined, susceptibility to 6
Hypertension, essential, susceptibility to 6
Kallmann syndrome 2 6
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to 6
Prostate cancer, susceptibility to 6
Rheumatoid arthritis 6
Schizophrenia, susceptibility to 6
Autism, susceptibility to, X-linked 6 5
Autoimmune thyroid disease 3 5
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 5
DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO 5
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 5
Hemolytic uremic syndrome, atypical, susceptibility to, 7 5
Hemorrhage, intracerebral, susceptibility to 5
Insulin resistance, susceptibility to 5
Malaria, cerebral, susceptibility to 5
Meningioma, familial 5
Metabolic syndrome, susceptibility to 5
Mycobacterium tuberculosis, susceptibility to 5
Myoclonic epilepsy, juvenile 1 5
Parkinson disease 11 5
Primary open angle glaucoma 5
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 4
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 4
Acquired partial lipodystrophy 4
Atrioventricular septal defect 2 4
Atypical hemolytic-uremic syndrome 5 4
Autoimmune disease 6 4
Blau syndrome; Inflammatory bowel disease 1 4
Colorectal cancer, susceptibility to 4
Dermatitis, atopic, 2, susceptibility to 4
Diabetes mellitus, insulin-dependent, susceptibility to 4
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 4
EPIDERMODYSPLASIA VERRUCIFORMIS 4
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 4
Epilepsy, childhood absence 6 4
Epilepsy, idiopathic generalized, susceptibility to, 12 4
Epilepsy, idiopathic generalized, susceptibility to, 15 4
Focal segmental glomerulosclerosis 4, susceptibility to 4
Herpes simplex encephalitis, susceptibility to, 4 4
Hirschsprung disease 3 4
Hypogonadotropic hypogonadism 15 with anosmia 4
Inflammatory bowel disease 1 4
Ischemic stroke, susceptibility to 4
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 4
Multiple self healing squamous epithelioma 4
Neuroblastoma 1 4
Neuroblastoma 3 4
Pancreatic cancer 3 4
Shy-Drager syndrome 4
Thyrotoxic periodic paralysis 2 4
Yao syndrome 4
Alcoholism, susceptibility to 3
Atypical hemolytic-uremic syndrome 6 3
Autism 15 3
Autism 17 3
Autism, susceptibility to, X-linked 2 3
Autism, susceptibility to, X-linked 3 3
Autism, susceptibility to, X-linked 4 3
Bardet-Biedl syndrome 1, modifier of 3
Bone mineral density quantitative trait locus 16 3
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 3
Charcot-Marie-Tooth disease, axonal, type 2T 3
Colorectal cancer 1 3
Colorectal cancer 10 3
Coronary artery disease, susceptibility to 3
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 3
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 3
Encephalopathy, acute, infection-induced, 3, suceptibility to 3
Epilepsy, childhood absence 5 3
Epilepsy, juvenile myoclonic 5 3
Exfoliation syndrome, susceptibility to 3
Glioma susceptibility 9 3
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 3
Hashimoto thyroiditis, susceptibility to 3
Hepatitis b virus, susceptibility to 3
Hereditary pancreatitis 3
Hirschsprung disease 4 3
Hypertriglyceridemia, susceptibility to 3
Hypogonadotropic hypogonadism 16 with or without anosmia 3
LUNG CANCER, SUSCEPTIBILITY TO 3
Moyamoya disease 2 3
Neural tube defects, folate-sensitive, susceptibility to 3
OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF 3
Pancreatitis, chronic, susceptibility to 3
Parkinson disease 13 3
Parkinson disease, mitochondrial 3
Paroxysmal nocturnal hemoglobinuria 2 3
Platelet-type bleeding disorder 13, susceptibility to 3
Spermatogenic failure 10 3
Subcutaneous panniculitis-like T-cell lymphoma 3
Thyrotoxic periodic paralysis 3
Uv-induced skin damage, susceptibility to 3
Wilms tumor 6 3
Age-related macular degeneration 8 2
Alzheimer disease 18 2
Alzheimer disease, late-onset, susceptibility to 2
Alzheimer disease, type 9 2
Aortic aneurysm, familial thoracic 11, susceptibility to 2
Aplastic anemia, susceptibility to 2
Aspergillosis, susceptibility to 2
Asthma and atopy, susceptibility to 2
Asthma, aspirin-induced, susceptibility to 2
Asthma-related traits, susceptibility to, 1 2
Asthma-related traits, susceptibility to, 5 2
Atherosclerosis, susceptibility to 2
Attention deficit-hyperactivity disorder, susceptibility to 2
Atypical hemolytic-uremic syndrome 4 2
Autism, susceptibility to, X-linked 5 2
Body mass index quantitative trait locus 9 2
Bone mineral density quantitative trait locus 15 2
Bronchiectasis with or without elevated sweat chloride 1, modifier of 2
Cancer of multiple types, susceptibility to 2
Celiac disease 3 2
Cirrhosis, noncryptogenic, susceptibility to 2
Congenital aneurysm of ascending aorta 2
Coronary artery spasm 1, susceptibility to 2
Craniosynostosis 5, susceptibility to 2
Cutaneous malignant melanoma 3 2
Cutaneous malignant melanoma 8 2
DIABETES, TYPE II, SUSCEPTIBILITY TO 2
Dementia, Lewy body, susceptibility to 2
Diabetes mellitus, ketosis-prone, susceptibility to 2
Dyslexia 1 2
Epilepsy juvenile absence 2
Epilepsy, childhood absence 2 2
Epilepsy, idiopathic generalized 6 2
Epilepsy, idiopathic generalized, susceptibility to, 14 2
Estrogen resistance 2
Familial hypercholesterolemia 2
Generalized epilepsy with febrile seizures plus type 5 2
Glaucoma, normal tension, susceptibility to 2
Glioma susceptibility 3 2
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO 2
Hemangioma, capillary infantile 2
Herpes simplex encephalitis 1 2
Herpes simplex encephalitis, susceptibility to, 7 2
Human immunodeficiency virus type 1, susceptibility to 2
Hypercalciuria, absorptive, susceptibility to 2
Hypercholesterolemia, susceptibility to 2
Hypertension, salt-sensitive essential, susceptibility to 2
Hypogonadotropic hypogonadism 19 with or without anosmia 2
Hypogonadotropic hypogonadism 9 with or without anosmia 2
Legionellosis 2
Leukemia, acute myeloid, susceptibility to 2
Long QT syndrome 2 2
Long qt syndrome 3, acquired, susceptibility to 2
Lumbar disc herniation, susceptibility to 2
Lung cancer susceptibility 2 2
MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO 2
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO 2
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF 2
Microvascular complications of diabetes 7 2
Multiple sclerosis modifier of disease progression 2
Myelodysplastic syndrome 2
Myocardial infarction, decreased susceptibility to 2
Nephrotic syndrome, type 2, susceptibility to 2
Neuroblastoma 2 2
Obsessive-compulsive disorder, susceptibility to 2
Osteoarthritis 2
Osteofibrous dysplasia 2
Parkinson disease 18 2
Parkinson disease 6, autosomal recessive early-onset 2
Pseudoxanthoma elasticum, modifier of severity of 2
Psoriasis 15, pustular, susceptibility to 2
Psoriatic arthritis, susceptibility to 2
Renal dysplasia diffuse cystic 2
Rheumatoid arthritis, systemic juvenile, susceptibility to 2
Smoking as a quantitative trait locus 3 2
Spastic paraplegia 4, modifier of 2
Stevens-Johnson syndrome 2
Susceptibility to progression to renal failure in IgA nephropathy 2
Susceptibility to severe cutaneous adverse reaction 2
Systemic lupus erythematosus 10 2
Tobacco addiction, susceptibility to 2
Toxic epidermal necrolysis 2
Venous thromboembolism, susceptibility to 2
not provided 2
46,XY sex reversal 8 1
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF 1
Abacavir hypersensitivity 1
Accelerated tumor formation, susceptibility to 1
Acquired susceptibility to long QT syndrome 1 1
Acute myeloid leukemia, M6 type 1
Addison disease, susceptibility to 1
Adenomatous polyposis coli, susceptibility to 1
Age-related macular degeneration 12 1
Age-related macular degeneration 5 1
Age-related macular degeneration 7 1
Alcohol dependence, susceptibility to 1
Allergic rhinitis, susceptibility to 1
Alzheimer disease, early-onset, susceptibility to 1
Amyotrophic lateral sclerosis 13 1
Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to 1
Angioedema induced by ACE inhibitors, susceptibility to 1
Ankylosing spondylitis 1
Anti-D isoimmunization affecting pregnancy 1
Antisocial behavior, susceptibility to 1
Aphasia, primary progressive, susceptibility to 1
Asperger syndrome X-linked 1 1
Asperger syndrome X-linked 2 1
Asthma, childhood, susceptibility to 1
Asthma, nocturnal, susceptibility to 1
Asthma-related traits, susceptibility to, 2 1
Asthma-related traits, susceptibility to, 7 1
Atopic asthma, susceptibility to 1
Atopy, susceptibility to 1
Attention deficit-hyperactivity disorder 7 1
Autism 16 1
Autism, susceptibility to, 19 1
Autism, susceptibility to, X-linked 1 1
Autoimmune disease 1 1
Bacteremia, susceptibility to, 2 1
Bardet-Biedl syndrome 12, modifier of 1
Bardet-Biedl syndrome 14, modifier of 1
Basal cell carcinoma, susceptibility to, 7 1
Benzene toxicity, susceptibility to 1
Beryllium disease, chronic, susceptibility to 1
Bipolar affective disorder, susceptibility to 1
Blepharospasm 1
Body mass index quantitative trait locus 10 1
Body mass index quantitative trait locus 12 1
Body mass index quantitative trait locus 18 1
Body mass index quantitative trait locus 4 1
Body mass index, modifier of 1
Brain pseudoatrophy, reversible, valproate-induced, susceptibility to 1
Breast and colorectal cancer, susceptibility to 1
Breast cancer, invasive, susceptibility to 1
Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers 1
Breast-ovarian cancer, familial 1 1
Budd-Chiari syndrome, susceptibility to 1
Budd-Chiari syndrome, susceptibility to, somatic 1
Bulbo-spinal atrophy X-linked 1
Buruli ulcer, susceptibility to 1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF 1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF 1
Carbamazepine hypersensitivity 1
Carcinoma of colon 1
Cardiac conduction defect, susceptibility to 1
Cardiomyopathy, familial hypertrophic, 4, susceptibility to 1
Celiac disease 4 1
Cerebral infarction, susceptibility to 1
Colon cancer, susceptibility to 1
Colorectal cancer 3 1
Colorectal cancer, sporadic, susceptibility to 1
Colorectal cancer, susceptibility to, 12 1
Common variable immunodeficiency 2 1
Coronary artery disease, modifier of 1
Coronary artery disease; Arteriosclerosis 1
Coronary artery spasm 2, susceptibility to 1
Coronary heart disease 1
Coronary heart disease 5 1
Coronary heart disease 6 1
Coronary heart disease 7 1
Craniosynostosis 7 1
Crohn disease-associated growth failure, susceptibility to 1
Cutaneous malignant melanoma 5 1
Cutaneous malignant melanoma 6 1
Cutaneous malignant melanoma 9 1
Cystic fibrosis 1
Deafness, autosomal recessive 12, modifier of 1
Deafness, autosomal recessive 26, modifier of 1
Deafness, mitochondrial, modifier of 1
Diabetes mellitus, insulin-dependent, 5 1
Diabetes mellitus, noninsulin-dependent, modifier of 1
Dilated cardiomyopathy 1BB 1
Distal arthrogryposis type 1A 1
Down syndrome, susceptibility to 1
Dystonia 1, torsion, modifier of 1
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 1
Encephalopathy, acute, infection-induced, 4, susceptibility to 1
Epidermolysis bullosa dystrophica, autosomal recessive, modifier of 1
Epilepsy with grand mal seizures on awakening 1
Epilepsy, childhood absence 4 1
Epilepsy, idiopathic generalized 10 1
Epilepsy, idiopathic generalized 8 1
Epilepsy, idiopathic generalized 9 1
Epilepsy, juvenile myoclonic 6 1
Epilepsy, juvenile myoclonic 7 1
Epilepsy, juvenile myoclonic 8 1
Esophageal cancer, alcohol-related, susceptibility to 1
Essential tremor, susceptibility to 1
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO 1
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO 1
Familial adenomatous polyposis 1 1
Familial cancer of breast 1
Familial hypertrophic cardiomyopathy 7 1
Fanconi anemia 1
Febrile seizures, familial, 3a 1
Follicular thyroid carcinoma 1
Gastric cancer susceptibility after h. pylori infection 1
Gilbert syndrome, susceptibility to 1
Glaucoma 1
Glioma susceptibility 1 1
Glioma susceptibility 2 1
HIV-1 viremia, susceptibility to 1
HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO 1
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO 1
Helicobacter pylori infection, susceptibility to 1
Hemochromatosis, type 1, modifier of 1
Hemochromatosis, type 2a, modifier of 1
Hemolytic disease of fetus OR newborn due to RhD isoimmunization 1
Hemolytic uremic syndrome, atypical, susceptibility to 1
Hepatitis c virus, susceptibility to 1
Hereditary cancer-predisposing syndrome 1
Herpes simplex encephalitis, susceptibility to, 3 1
Hirschsprung disease 1
Human immunodeficiency virus dementia, susceptibility to 1
Hyperapobetalipoproteinemia, susceptibility to 1
Hypertension, pregnancy-induced, susceptibility to 1
Hypertrypsinemia, neonatal, susceptibility to 1
Hypogonadotropic hypogonadism 17 with or without anosmia 1
Hypogonadotropic hypogonadism 20 with or without anosmia 1
Hypogonadotropic hypogonadism 8 with or without anosmia 1
Hypomimic face; Parkinsonism; Resting tremor; Thoracolumbar scoliosis; Abnormality of movement 1
IgA nephropathy, susceptibility to, 3 1
Inflammatory bowel disease 10, susceptibility to 1
Inflammatory bowel disease 13 1
Inflammatory bowel disease 14, susceptibility to 1
Influenza 1
Intervertebral disc disease, susceptibility to 1
Intimal medial thickness of internal carotid artery, modifier of 1
Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to 1
Intrinsic factor deficiency, congenital, susceptibility to 1
Ischemic heart disease, susceptibility to 1
Kaposi sarcoma, susceptibility to 1
Kawasaki disease, susceptibility to 1
Leprosy 3 1
Leprosy 5 1
Leprosy, early-onset, susceptibility to 1
Leukemia, acute lymphoblastic, susceptibility to 1
Leukemia, acute lymphoblastic, susceptibility to, 3 1
Leukemia, post-chemotherapy, susceptibility to 1
Long QT syndrome 1
Long QT syndrome 2, acquired, susceptibility to 1
Long QT syndrome 5 1
Long QT syndrome 5, acquired, susceptibility to 1
Long QT syndrome 6 1
Long QT syndrome 6, acquired, susceptibility to 1
Long QT syndrome 9, acquired, susceptibility to 1
Lumbar disc degeneration, susceptibility to 1
Lumbar disc disease, susceptibility to 1
Lupus nephritis, susceptibility to 1
MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO 1
MCAD deficiency, modifier of 1
Macular degeneration, age-related, 15 1
Major affective disorder 7, susceptibility to 1
Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to 1
Malaria, mild, susceptibility to 1
Malaria, severe, susceptibility to 1
Malignant hyperthermia susceptibility type 5 1
Meckel syndrome, type 6, modifier of 1
Memory impairment, susceptibility to 1
Microvascular complications of diabetes 1 1
Microvascular complications of diabetes 2 1
Microvascular complications of diabetes 3 1
Microvascular complications of diabetes 4 1
Microvascular complications of diabetes 5 1
Microvascular complications of diabetes 6 1
Migraine without aura, susceptibility to 1
Migraine, susceptibility to 1
Migraine, with or without aura 13 1
Multibacillary leprosy 1
Multiple myeloma, translocation 11,14 type 1
Multiple sclerosis susceptibility 1 1
Multiple sclerosis, susceptibility to, 5 1
Mycobacterium tuberculosis, susceptibility to infection by 1
Myocardial infarction 1 1
Nasopharyngeal carcinoma, susceptibility to, 3 1
Nonarteritic anterior ischemic optic neuropathy, susceptibility to 1
OBESITY (BMIQ14), SUSCEPTIBILITY TO 1
OBESITY (BMIQ17), SUSCEPTIBILITY TO 1
Obesity, early-onset, susceptibility to 1
Obesity, modifier of 1
Occult macular dystrophy 1
Osteoarthritis of distal interphalangeal joint 1
Osteoarthritis of hip 1
Osteoarthritis susceptibility 3 1
Otitis media, susceptibility to 1
Pancreatic cancer 1 1
Pancreatic cancer 2 1
Pancreatic cancer 4 1
Pancreatic cancer, susceptibility to 1
Pancreatitis, idiopathic, susceptibility to 1
Parkinson disease 5 1
Parkinson disease 6 1
Parkinson disease 8, autosomal dominant 1
Parkinsonism 1
Parkinsonism; Neurological speech impairment; Hyperlipidemia; Lower limb muscle weakness; Dementia; Hypertension 1
Parkinsonism; Tremor; Rigidity; Cogwheel rigidity 1
Pheochromocytoma, modifier of 1
Polycystic ovary syndrome, susceptibility to 1
Porphyria cutanea tarda, susceptibility to 1
Porphyria variegata, susceptibility to 1
Preeclampsia, susceptibility to 1
Preeclampsia/eclampsia 4 1
Pregnancy loss, recurrent, susceptibility to, 2 1
Pregnancy loss, recurrent, susceptibility to, 3 1
Prion disease, susceptibility to 1
Prostate cancer, hereditary, 13 1
Prostate cancer/brain cancer susceptibility 1
Protein S deficiency 1
Pseudofolliculitis barbae, susceptibility to 1
Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis 1
Psoriasis susceptibility 1 1
Psoriasis susceptibility 13 1
Pulmonary disease, chronic obstructive, susceptibility to 1
Pulmonary fibrosis, idiopathic, susceptibility to 1
Pulmonary hypertension, neonatal, susceptibility to 1
Recurrent abortion 1
Retinitis pigmentosa in ciliopathies, modifier of 1
SCHIZOPHRENIA 9, SUSCEPTIBILITY TO 1
SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF 1
Sarcoidosis 1 1
Sarcoidosis 2 1
Schizophrenia 17 1
Sepsis, susceptibility to 1
Septic shock, susceptibility to 1
Serum level of adiponectin 1 1
Sick sinus syndrome 3, susceptibility to 1
Sleep-wake schedule disorder, delayed phase type 1
Spermatogenic failure, susceptibility to 1
Spina bifida, folate-sensitive, susceptibility to 1
Spina bifida, susceptibility to 1
Spinal muscular atrophy, modifier of 1
Stroke, hemorrhagic, susceptibility to 1
Sublingual nitroglycerin, susceptibility to poor response to 1
Susceptibility to hangover 1
Susceptibility to neovascular type of age-related macular degeneration 1
Synovitis, chronic, susceptibility to 1
Systemic lupus erythematosus 11 1
Systemic lupus erythematosus 9 1
Systemic lupus erythematosus, association wit 10 1
Systemic lupus erythematosus, association wit 2 1
THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO 1
Thrombocytosis, benign familial microcytic 1
Thrombophilia due to activated protein C resistance 1
Thyroid-associated orbitopathy, susceptibility to 1
Tsc2 angiomyolipomas, renal, modifier of 1
Tuberculosis, susceptibility to 1
Unipolar depression, susceptibility to 1
Uric acid concentration, serum, quantitative trait locus 4 1
Uric acid nephrolithiasis, susceptibility to 1
Usher syndrome, type 2A 1
VON HIPPEL-LINDAU SYNDROME, MODIFIER OF 1
Vascular dementia, susceptibility to 1
Venoocclusive disease after bone marrow transplantation, susceptibility to 1
Venous thrombosis, susceptibility to 1
Virus-induced diabetes 1
Vitiligo-associated multiple autoimmune disease susceptibility 1 1
West nile virus, susceptibility to 1
von Willebrand disease, type 1, susceptibility to 1

Breakdown by gene #

Total genes and gene combinations: 482
Download table as spreadsheet
Gene Variants
CDKN2A 19
FGFR1 18
RYR1 17
RET 15
CFH 14
POT1 11
PALB2 10
CHD8 8
CFI 7
EFHC1 7
RAD51C 7
C3 6
CACNA1H 6
CD46 6
DDX41 6
MC1R 6
PDX1 6
PRODH 6
TLR3 6
CARD10 5
CHEK2 5
CIB1 5
DGKE 5
EDNRB 5
GBA, LOC106627981 5
GIGYF2 5
HS6ST1 5
NOD2 5
ABCA4 4
ALK 4
APOL1 4
CACNA1S 4
CAPN10 4
COQ2 4
CRELD1 4
DCTN1 4
ESR1 4
FLG 4
GABRA1 4
GDNF 4
HLA-B 4
ICK 4
KCNJ18 4
KIF1B 4
KIF5A 4
LMNB2 4
LPL 4
MAX 4
MTNR1B 4
NEK1 4
NUP214 4
PARD3 4
RAD51D 4
RORB 4
SIAE 4
SLC2A1 4
SMARCE1 4
TG 4
TGFBR1 4
TICAM1 4
TMC6 4
TMEM127 4
TMLHE 4
ADCY3 3
BRCA2 3
CD36 3
CNTNAP2 3
COL4A2 3
CTRC 3
EDN3 3
ENPP1 3
FLRT3, MACROD2 3
FRAS1 3
FUZ 3
GABRA2 3
GABRB3 3
GALNT12 3
GHRL, GHRLOS 3
HAVCR2 3
IRF5 3
LOXL1 3
MECP2 3
MET 3
MME 3
NLGN4X 3
PIGT 3
POLD1 3
PTCHD1 3
RANBP2 3
REST 3
RNF213 3
SEMA3A 3
SEPTIN12 3
SHANK2 3
SMAD6 3
TBK1 3
TBXA2R 3
THBD 3
TLR2 3
TMC8 3
TNF 3
TPH2 3
VANGL1 3
WNT1 3
A2M, KLRG1 2
ABCA7 2
ADAM10 2
ADCY10 2
ADCY3, CENPO 2
ADRB2 2
AGT 2
ALX4 2
AP1S3 2
AP4B1, PTPN22 2
APOA5 2
ARMS2 2
ATXN2 2
BICC1 2
BRCA1 2
CACNB4 2
CD209 2
CDK4 2
CELSR1 2
CFB 2
CFTR 2
CLCN2 2
COL4A1 2
CTLA4 2
DLC1 2
DNAAF4, DNAAF4-CCPG1 2
DNASE1 2
DRD5 2
DUSP6 2
ECE1 2
EIF4G1 2
FCGR2B 2
FOXE3, LINC01389 2
FREM2 2
FRZB 2
GABBR2 2
GABRD 2
GABRG2 2
GATA2 2
HLA-C 2
HLA-DRB1 2
HNF1A 2
HTR2A 2
HTRA2 2
IFNGR1 2
IL13 2
IL17RD 2
IRAK3 2
IRF3 2
IRS2 2
KCNE2 2
KCNH2 2
LOC100287329, LTA 2
MC3R 2
MTHFD1 2
MTHFR 2
MTMR14 2
NBN 2
NOS3 2
NSMF 2
OLR1 2
PAX4 2
PHOX2B 2
PLA2G7 2
PON1 2
PTGDR 2
RAD51D, RAD51L3-RFFL 2
RBPJL 2
RPL10 2
RTN4R 2
SLC11A1 2
SLC12A5 2
SPAST 2
SPINK1 2
TCF7L2 2
TERT 2
TLR5 2
TP53 2
UNC93B1 2
USF1 2
VANGL2 2
WDPCP 2
A2ML1 1
ABCB1 1
ABCC8, KCNJ11 1
ACADM 1
ACE 1
ACTA2, FAS 1
ADD1 1
ADH1C 1
ADIPOQ, LOC106660625 1
ADRB3 1
AGTR1 1
AKAP10 1
AKR1C4 1
ALDH2 1
ALG10 1
ALOX5 1
ANTXR1 1
ANXA5 1
APC 1
APOA5, LOC108491825 1
APOE 1
AQP7 1
AR, LOC109504725 1
ARL6 1
ASPN, CENPP 1
ATG16L1 1
ATM 1
ATM, C11orf65 1
ATP2B2 1
ATRIP, ATRIP-TREX1, TREX1 1
ATXN3, LOC108663987 1
ATXN8, ATXN8OS 1
AURKA 1
AXDND1, NPHS2 1
BARD1 1
BDNF 1
BMP2 1
BTNL2, TSBP1 1
C10orf55, PLAU 1
C9 1
CALCR 1
CARTPT 1
CASP12 1
CASR 1
CAV3 1
CBLIF 1
CCDC28B 1
CCL11 1
CCL2 1
CCND1 1
CCR5, CCR5AS 1
CD244 1
CDH1 1
CFHR1, CFHR3 1
CFTR, LOC111674472 1
CHI3L1 1
CHRNA3 1
CHRNA5 1
CIITA 1
CILP 1
CISH, MAPKAPK3 1
CLEC1A 1
CLEC7A 1
COL11A1 1
COL3A1 1
COL9A3 1
COMT 1
CPS1 1
CPT2 1
CR2 1
CRY1 1
CX3CR1 1
CYP17A1 1
CYP3A5 1
DAZL 1
DGCR6, HSERVPRODH, PRODH 1
DGCR6, PRODH 1
DISC1 1
DRD3 1
DRD4 1
DSG2 1
EDNRB, LOC107882129 1
EEF1AKNMT 1
EIF4E 1
EPHB2 1
EPHX2 1
EPO 1
ERBB3 1
ERCC6, ERCC6-PGBD3 1
F10, F7 1
F13B 1
F2 1
F5 1
F7 1
FANCM 1
FASLG 1
FCGR2A 1
FFAR4 1
FGA 1
FGF17 1
FKBP5 1
FOXD3 1
FTO 1
GCLC 1
GCLM 1
GDF5, LOC109461476 1
GHR 1
GLI3 1
GNB3 1
GP1BA 1
GRN 1
HABP2 1
HAMP 1
HFE 1
HFE, LOC108783645 1
HLA-A 1
HLA-DPB1 1
HMCN1 1
HMGA1 1
HMOX1 1
HNMT 1
HOXB13 1
HS3ST1 1
HTRA1 1
HTRA2, LOXL3 1
ICAM1 1
IFITM3 1
IFNAR2 1
IFNG 1
IGF2BP2 1
IL10, IL19 1
IL10RB 1
IL1B 1
IL1RN 1
IL4R 1
IL6 1
INSL6, JAK2 1
IRS1 1
ITGB1 1
ITGB3 1
ITIH4 1
ITPKC 1
JPH1 1
KALRN 1
KCNE1 1
KCNK18 1
KCNQ1 1
KDR 1
KISS1R 1
KLC1, XRCC3 1
KRT18, KRT8, LOC106096416 1
KRT75 1
KRT8 1
LGALS2 1
LIPC 1
LOC100506321, MAX 1
LOC101927267, PRPH 1
LOC101928222, MATN3 1
LOC101929523, THBS2 1
LOC101929710, PCSK1 1
LOC108903148, OPTN 1
LOC110121269, SCN5A 1
LOC110121472, TCF7L2 1
LOC110121502, MCS+9.7, RET 1
LOC110973015, NOS3 1
LRP8 1
LRRK2 1
LTA 1
MAOA 1
MAPT 1
MDM2 1
MIAT 1
MIF 1
MITF 1
MKKS 1
MLH1 1
MMP1 1
MMP3 1
MPL 1
MPO 1
MRAP2 1
MRC1 1
MS4A2 1
MSMB 1
MST1R 1
MT-ATP8 1
MT-CYB 1
MT-ND5 1
MT-ND6 1
MT-TP 1
MT-TT 1
MTR 1
MTRR 1
MUC5B 1
MYBPC3 1
MYH6 1
MYO9B 1
MYOC 1
NCR3 1
NEFH 1
NFKBIL1 1
NLGN3 1
NLRP1 1
NLRP12 1
NPHS2 1
NPSR1 1
NQO1 1
NRXN1 1
OPA1 1
PALLD 1
PAX5 1
PDCD1 1
PDLIM4 1
PDZD7 1
PHB 1
PINK1 1
POLE 1
POMC 1
PPARA 1
PPARG 1
PPP1R17 1
PPP1R3A 1
PRKCH 1
PRNP 1
PROS1 1
PRPH 1
PSMA6 1
PTEN 1
PTGER2 1
PTPN1 1
PTPRC 1
RAD51 1
RETN 1
RHD, RSRP1 1
RHOH 1
RNASEL 1
ROBO4 1
RP1L1 1
RPGRIP1L 1
SBDS 1
SCGB3A2 1
SCN1A 1
SCN5A 1
SLC17A3 1
SLC22A4 1
SLC30A8 1
SLC35A1 1
SLC6A4 1
SLC9A9 1
SMAD3 1
SMAD7 1
SMN2 1
SOD2 1
SPRY2 1
SPRY3, TMLHE 1
SPRY4 1
SRGAP1 1
STAT4 1
STOX1 1
SUFU 1
SUMO4, TAB2 1
SUPT20H 1
TAS2R16 1
TBP 1
TBX21 1
TBXT 1
TF 1
TFR2 1
TGFB1 1
TLR1 1
TMEM59 1
TMEM67 1
TNFRSF13B 1
TNFRSF1A 1
TNNI3 1
TOR1A 1
TRAF3 1
TRAF3IP2 1
TRMU 1
TRPM7 1
TTR 1
TYK2 1
TYR 1
TYRP1 1
UCHL1 1
UCP2 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1
VEGFA 1
VWF 1
XBP1 1
XPNPEP2 1
XRCC3 1
XYLT1 1
XYLT2 1
ZFAT 1
ZNF365 1

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