SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS772609811 MMUT Health Risk Pathogenic —
RS772611021 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS772611372 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS772612029 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772612775 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS772613563 RAB11A Health Risk Likely pathogenic 7 conditions, 7 conditions
RS772613828 MYH2 Health Risk Pathogenic Myopathy, proximal
RS772615481 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS772615576 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS772616533 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS772616971 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS772617029 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS772617064 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS772618481 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS772619023 SFTPB Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS772619184 LINS1 Health Risk Conflicting classifications of pathogenicity —
RS772620276 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS772621139 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS772622537 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS772622926 PKD1L1 Health Risk Pathogenic/Likely pathogenic Heterotaxy, visceral
RS772624348 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS772624410 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS772625773 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772627507 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS772628295 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS772628892 SPEG Health Risk Conflicting classifications of pathogenicity —
RS772629538 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS772633264 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS772634266 TET2 Health Risk Likely pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS772637593 EMC1 Health Risk Pathogenic —
RS772638313 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS772638759 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS772638774 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS772639262 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS772639350 CAD Health Risk Conflicting classifications of pathogenicity —
RS772640324 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS772640673 TMC1 Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 7
RS772640819 KDM5B Health Risk Pathogenic —
RS772642133 FTO Health Risk Conflicting classifications of pathogenicity Lethal polymalformative syndrome, Boissel type
RS772643100 IGSF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772643900 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS772643931 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS772644235 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS772644757 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS772645059 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772645133 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS772646452 CHRNG Health Risk Likely pathogenic —
RS772646601 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS772646899 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS772647830 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS772648593 AP2M1 Health Risk Conflicting classifications of pathogenicity —
RS772650083 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS772652088 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS772652116 SLC45A2 Health Risk Pathogenic —
RS772652266 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS772652517 SLC6A5 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 3, SLC6A5-related disorder
RS772652844 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS772653113 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS772654647 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS772656461 TTLL5 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 19, Cone-rod dystrophy 19
RS772656687 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases
RS772656696 GALNS Health Risk Pathogenic Morquio syndrome, Mucopolysaccharidosis
RS772656967 MAP3K7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772657844 MYPN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS772658288 TACSTD2 Health Risk Conflicting classifications of pathogenicity Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS772658660 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772659239 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS772659513 COL4A4 Health Risk Pathogenic Alport syndrome, Benign familial hematuria
RS772660572 MMUT Health Risk Likely pathogenic —
RS772660830 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly
RS772661539 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS772662439 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS772663756 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS772663974 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS772664716 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS772664968 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772665115 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS772665481 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS772665884 CRADD Health Risk Pathogenic Moderate intellectual disability, Intellectual disability
RS772666638 AUTS2 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS772667365 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS772667717 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS772667974 SNORD118 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS772668988 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS772669262 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772669312 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS772669837 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS772669887 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS772671498 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS772673105 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS772673873 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS772675011 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS772675747 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS772677312 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS772677752 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS772678337 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS772678450 OTOF Health Risk Conflicting classifications of pathogenicity —
RS772678500 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Bone osteosarcoma
RS772679497 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS772679887 MYO3A Health Risk Conflicting classifications of pathogenicity MYO3A-related disorder, MYO3A-related disorder
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