SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS794729599 TTN Health Risk Conflicting classifications of pathogenicity —
RS794729602 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS794729634 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794729637 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS794729641 ZIC2 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS794729643 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS794729645 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS794729648 HNRNPU Health Risk Pathogenic/Likely pathogenic Intellectual disability and seizures, Developmental and epileptic encephalopathy
RS794729649 STX11 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS794729650 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Retinal dystrophy
RS794729651 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS794729652 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS794729653 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS794729654 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS794729655 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS794729656 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS794729657 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS794729658 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS794729659 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS794729660 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS794729661 BUB1 Health Risk Pathogenic Colorectal cancer with chromosomal instability, somatic
RS794729663 ASAH1 Health Risk Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS794729664 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS794729665 DCDC2 Health Risk Pathogenic Nonsyndromic Deafness, Autosomal recessive nonsyndromic hearing loss 66
RS794729666 RNF31 Health Risk Pathogenic Immunodeficiency 115 with autoinflammation, Immunodeficiency 115 with autoinflammation
RS794729667 ATP6V1B2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant deafness - onychodystrophy syndrome, Neurodevelopmental delay
RS794729668 MED25 Health Risk Pathogenic Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
RS794729669 GRN Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS794729670 GRN Health Risk Pathogenic Frontotemporal dementia, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS794729671 GRN Health Risk Pathogenic Frontotemporal dementia, Cognitive impairment
RS794729672 GRN Health Risk Pathogenic Frontotemporal dementia, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS794729673 CARD11 Health Risk Pathogenic BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS794729674 POLR1A Health Risk Pathogenic Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
RS794729675 GJA1 Health Risk Pathogenic/Likely pathogenic Erythrokeratodermia variabilis et progressiva 3, Oculodentodigital dysplasia
RS79473918 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS79474211 PRKAG2 Health Risk Conflicting classifications of pathogenicity PRKAG2 cardiac syndrome, Cardiovascular phenotype
RS79487279 NOS1 Health Risk Conflicting classifications of pathogenicity NOS1-related disorder, NOS1-related disorder
RS79487435 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS79489944 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS79500874 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS79509460 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder
RS79512956 APC Health Risk Pathogenic Familial colorectal cancer, Hereditary cancer-predisposing syndrome
RS79517280 ADGRG7 Health Risk Conflicting classifications of pathogenicity —
RS79521091 SLC26A2 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II
RS79524027 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, COACH syndrome 1
RS79532879 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS79533881 FAT2 Health Risk Conflicting classifications of pathogenicity FAT2-related disorder, FAT2-related disorder
RS79535262 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS79535495 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS79541196 DMD Health Risk Pathogenic/Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS79546623 RNF20 Health Risk Conflicting classifications of pathogenicity —
RS79555199 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS79559386 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DCHS1-related disorder
RS79562044 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS79568371 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Colorectal cancer
RS79571328 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS79571582 UTP20 Health Risk Conflicting classifications of pathogenicity —
RS79572315 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS79588289 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS79588413 RAX2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 6, Cone-rod dystrophy 11
RS79589823 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS79597821 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS79599913 ADORA1 Health Risk Conflicting classifications of pathogenicity —
RS79602188 GRM6 Health Risk Conflicting classifications of pathogenicity GRM6-related disorder, Hepatocellular carcinoma
RS796051849 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS796051851 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS796051852 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS796051853 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS796051854 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS796051855 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS796051856 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS796051857 ATM Health Risk Pathogenic Mantle cell lymphoma, Mantle cell lymphoma
RS796051858 ATM Health Risk Pathogenic/Likely pathogenic Ataxia - telangiectasia variant, Hereditary cancer-predisposing syndrome
RS796051859 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS796051860 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1D
RS796051861 CDH23 Health Risk Pathogenic Usher syndrome type 1D, USHER SYNDROME
RS796051862 TNFRSF11A Health Risk Pathogenic Paget disease of bone 2, early-onset
RS796051863 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS796051864 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS796051865 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS796051866 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Retinal dystrophy
RS796051867 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS796051868 TNFRSF11B Health Risk Pathogenic Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS796051869 SQSTM1 Health Risk Pathogenic Paget disease of bone 3, Paget disease of bone 3
RS796051870 SQSTM1 Health Risk Pathogenic Paget disease of bone 3, Paget disease of bone 2
RS796051871 PDE6C Health Risk Pathogenic/Likely pathogenic Achromatopsia 5, Cone dystrophy 4
RS796051872 ABCA1 Health Risk Pathogenic Tangier disease, Tangier disease
RS796051873 ABCA1 Health Risk Pathogenic Tangier disease, Tangier disease
RS796051874 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS796051877 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS796051878 TYR Health Risk Likely pathogenic —
RS796051880 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1, Oculocutaneous albinism type 1A
RS796051881 PEX5 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata type 5
RS796051882 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Retinal dystrophy
RS796051884 MYH3 Health Risk Pathogenic Contractures, pterygia
RS796051885 TGFB3 Health Risk Pathogenic/Likely pathogenic Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS796051887 IL2RA Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS796051888 IL2RA Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS796051889 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS796051891 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Syndromic complex neurodevelopmental disorder
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