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
RS1322090113 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1322092837 USH2A Health Risk Pathogenic/Likely pathogenic —
RS1322095182 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1322095633 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1322100078 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1322140250 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1322141600 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1322144248 MRPS22 Health Risk Pathogenic Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
RS1322162359 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1322172446 SCN1B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 5
RS1322189326 TPO Health Risk Likely pathogenic —
RS1322189782 CFAP410 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS13222 AKR1C2 Health Risk Pathogenic 46, XY disorder of sex development due to testicular 17
RS1322206611 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1322207888 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS1322231013 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1322244059 FXR1 Health Risk Pathogenic Myopathy, congenital proximal
RS1322248626 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1322260893 OCA2 Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1322266202 CLCN7 Health Risk Likely pathogenic —
RS1322278463 PRPH2 Health Risk Pathogenic/Likely pathogenic Patterned dystrophy of the retinal pigment epithelium, PRPH2-related disorder
RS1322282571 SRP19 Health Risk Pathogenic Shwachman-Diamond syndrome 1, Severe congenital neutropenia
RS1322313531 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1322313985 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1322319973 BAP1 Health Risk Pathogenic —
RS1322344930 OBSCN Health Risk risk factor Rhabdomyolysis, susceptibility to
RS1322345200 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Hereditary angioedema type 1
RS1322369710 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS13223704 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS1322406234 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1322423998 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS1322454680 CEL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1322458975 CACNA1S Health Risk Pathogenic Congenital myopathy 18, Hypokalemic periodic paralysis
RS1322472709 HK1 Health Risk Likely pathogenic Neurodevelopmental disorder with visual defects and brain anomalies, Neurodevelopmental disorder with visual defects and brain anomalies
RS1322496244 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1322503729 IGF1R Health Risk Pathogenic Inborn genetic diseases, Growth delay due to insulin-like growth factor I resistance
RS1322527075 ZNF750 Health Risk Pathogenic Seborrhea-like dermatitis with psoriasiform elements, Seborrhea-like dermatitis with psoriasiform elements
RS1322527832 PHKB Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1322541651 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS1322543333 COL2A1 Health Risk Pathogenic —
RS1322549762 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1322560606 CYP11B1 Health Risk Conflicting classifications of pathogenicity —
RS1322566644 DNAAF4 Health Risk Pathogenic —
RS1322586198 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1322586390 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS1322587342 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1322590833 COL6A1 Health Risk Pathogenic —
RS1322596650 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1322620894 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1322622893 SPG11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 11
RS1322629595 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS1322638469 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS1322650779 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1322658068 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1322662992 PHEX Health Risk Pathogenic —
RS1322689394 ALDOB Health Risk Likely pathogenic —
RS1322698222 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1322705042 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 14
RS1322708706 COL9A2 Health Risk Conflicting classifications of pathogenicity —
RS1322721879 CEP78 Health Risk Pathogenic/Likely pathogenic —
RS1322754256 NR1H4 Health Risk Conflicting classifications of pathogenicity —
RS1322783114 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS1322791959 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1322795745 GORAB Health Risk Pathogenic —
RS1322796318 ITPR1 Health Risk Pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS1322799946 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1322800124 COL9A1 Health Risk Likely pathogenic —
RS1322803235 ADGRA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1322807658 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS1322819699 LNPK Health Risk Likely pathogenic Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
RS1322829123 COL9A1 Health Risk Likely pathogenic —
RS1322831151 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1322832121 SPEG Health Risk Pathogenic —
RS1322871046 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1322871899 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1322884865 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1322889530 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1322900367 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1322905273 ADAR Health Risk Pathogenic Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS1322913410 TARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS1322947350 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS1322951938 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS1322974029 FARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1322979131 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS1322986343 XPC Health Risk Pathogenic —
RS1322986962 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1322987070 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1322987429 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS1323001046 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1323016653 FDXR Health Risk Pathogenic/Likely pathogenic Auditory neuropathy-optic atrophy syndrome, Multiple mitochondrial dysfunctions syndrome 9b
RS1323035335 SEC63 Health Risk Likely pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS1323060528 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1323074715 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1323078491 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1323094107 MINPP1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia, type 16
RS1323094309 FAM161A Health Risk Pathogenic —
RS1323097421 MYBPC3 Health Risk Pathogenic —
RS1323138654 TULP1 Health Risk Likely pathogenic —
RS1323139544 PUS1 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS1323140691 MAST1 Health Risk Conflicting classifications of pathogenicity —
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