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
RS781581062 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS781581679 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS781582912 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS781583220 ZFHX4 Health Risk Conflicting classifications of pathogenicity —
RS781583687 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS781584370 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS781584590 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS781584789 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS781585299 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS781586600 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS781587135 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS78158757 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS781587827 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS781587897 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS781589851 PYGL Health Risk Likely pathogenic —
RS781590560 DES Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I
RS781590955 SDHB Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS781591228 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS781593146 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS781593353 CD27 Health Risk Pathogenic/Likely pathogenic Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
RS781595324 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS781596375 AAGAB Health Risk Pathogenic Palmoplantar keratoderma, punctate type 1A
RS781599112 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS781600849 PARK7 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS781602116 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Cognitive impairment with or without cerebellar ataxia
RS781602446 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS781603142 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS781603465 AGGF1 Health Risk Likely pathogenic Non-syndromic syndactyly, Non-syndromic syndactyly
RS781603729 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS781603756 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS781604042 HBB Health Risk Conflicting classifications of pathogenicity —
RS781609575 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS781609742 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS781610444 TRPM1 Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS781611267 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS781612689 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS781613132 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS781613690 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS781614031 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS781614640 SMC1B Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS781614679 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS781616522 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS781616553 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS781617143 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS781617345 ABCC8 Health Risk Pathogenic/Likely pathogenic Hereditary hyperinsulinism, Diabetes mellitus
RS781619673 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS781621925 UROC1 Health Risk Pathogenic/Likely pathogenic Urocanate hydratase deficiency, Urocanate hydratase deficiency
RS781622986 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781623106 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS781623802 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS781624176 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS781625683 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS781625939 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS781626894 C4B Health Risk Conflicting classifications of pathogenicity —
RS781626919 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS781627051 IBA57 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS781627334 CFI Health Risk Likely pathogenic —
RS781627838 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS781627991 CPOX Health Risk Conflicting classifications of pathogenicity —
RS781628736 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS781629728 ATP1A1 Health Risk Likely pathogenic Hypomagnesemia, seizures
RS781630355 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS781630523 FASTKD2 Health Risk Conflicting classifications of pathogenicity —
RS781630569 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS781630603 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS781631629 ALOXE3 Health Risk Pathogenic Lamellar ichthyosis, Congenital nonbullous ichthyosiform erythroderma
RS781631671 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS781632867 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS781633079 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS781633250 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS781633384 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, KIT-related disorder
RS781633980 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS781634167 LAMA1 Health Risk Pathogenic —
RS781634544 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781636320 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS781636798 RECQL4 Health Risk Likely pathogenic RECQL4-related disorder, RECQL4-related disorder
RS781637328 ANTXR2 Health Risk Pathogenic/Likely pathogenic Hyaline fibromatosis syndrome, Juvenile hyaline fibromatosis
RS781637501 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS781637955 MSTO1 Health Risk Likely pathogenic —
RS781638484 BRPF1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and ptosis, Inborn genetic diseases
RS781641023 COG6 Health Risk Pathogenic —
RS781641821 AGBL5 Health Risk Pathogenic —
RS781644489 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS781645624 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS781646325 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS781646725 RARS2 Health Risk Conflicting classifications of pathogenicity —
RS781646869 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A
RS781647403 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS781649493 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS781652233 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781652310 EDAR Health Risk Conflicting classifications of pathogenicity Hypohidrotic ectodermal dysplasia, Inborn genetic diseases
RS781654974 TRMT1 Health Risk Pathogenic —
RS781655232 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS781655324 DDB2 Health Risk Pathogenic Xeroderma pigmentosum, group E
RS781655422 PPA2 Health Risk Conflicting classifications of pathogenicity Sudden cardiac failure, alcohol-induced
RS781657137 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance
RS781657502 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS781657758 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781658083 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS781658171 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
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