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
RS866316633 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS866329957 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS866333931 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS866335788 MYORG Health Risk Conflicting classifications of pathogenicity Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS866340497 CYP7B1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia
RS866345446 TANC2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS866348422 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS866352637 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1B, Usher syndrome
RS866364527 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS866367185 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS866370455 ASH1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 52
RS866373727 DPYSL5 Health Risk Pathogenic Ritscher-Schinzel syndrome 4, DPYSL5-related disorder
RS866374385 ERCC6 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS866379139 ERCC3 Health Risk Pathogenic Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS866380588 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS866386973 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, SNTA1-related disorder
RS866388216 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS866392702 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS866395428 LCA5 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis
RS866395974 RP1 Health Risk Pathogenic —
RS866399151 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Intellectual disability
RS866400911 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS866402530 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS866403196 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS866407525 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS866415691 KMT2B Health Risk Likely pathogenic —
RS866419580 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS866424446 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS866426234 PBX1 Health Risk Pathogenic —
RS866429868 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Hypophosphatemic rickets
RS866430018 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS866430850 EP300 Health Risk Pathogenic —
RS866431185 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS866434305 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS866435331 CDH23 Health Risk Pathogenic Inborn genetic diseases, Usher syndrome type 1D
RS866435487 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS866435648 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS866445127 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS866464446 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS866467799 ZNF292 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS866468317 MYSM1 Health Risk Pathogenic Bone marrow failure syndrome 4, Bone marrow failure syndrome 4
RS866469235 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Inborn genetic diseases
RS866472917 PKLR Health Risk Pathogenic/Likely pathogenic —
RS866475029 ZNF292 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 64
RS866476223 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS866477353 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS866479368 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS866487633 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS866493167 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS866494171 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS866494435 SZT2 Health Risk Conflicting classifications of pathogenicity —
RS866495683 SCNN1G Health Risk Pathogenic Bronchiectasis with or without elevated sweat chloride 3, Bronchiectasis with or without elevated sweat chloride 3
RS866500582 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS866502805 COL2A1 Health Risk Pathogenic COL2A1-related disorder, COL2A1-related disorder
RS866504799 TGFB2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS866504928 CAVIN1 Health Risk Pathogenic Congenital generalized lipodystrophy type 4, Congenital generalized lipodystrophy type 4
RS866511152 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS866512456 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS866518214 SYNPO Health Risk Conflicting classifications of pathogenicity —
RS866520787 LRP2 Health Risk Pathogenic/Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS866521873 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS866524368 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS866525850 KDM5B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS866536893 WDFY3 Health Risk Pathogenic/Likely pathogenic Microcephaly 18, primary
RS866539724 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS866543181 PCARE Health Risk Pathogenic Retinal dystrophy, Autosomal recessive retinitis pigmentosa
RS866548835 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Hereditary cancer-predisposing syndrome
RS866551482 WDR73 Health Risk Likely pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS866558712 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS866566089 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS866575708 TERT Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS866578354 ALG8 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic liver disease, ALG8 congenital disorder of glycosylation
RS866581841 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS866589638 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS866592729 BRWD3 Health Risk Pathogenic Intellectual disability, X-linked 93
RS866595552 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS866595729 MCPH1 Health Risk Likely pathogenic —
RS866599436 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS866604005 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS866604517 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS866606166 LRP5 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS866608532 ADGRG1 Health Risk Likely pathogenic Polymicrogyria, bilateral perisylvian
RS866612394 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS866622752 PRKAR1B Health Risk Likely pathogenic Marbach-Schaaf neurodevelopmental syndrome, Marbach-Schaaf neurodevelopmental syndrome
RS866625610 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS866629962 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, UNC13D-related disorder
RS866630296 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS866632178 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS866636096 GRIN2B Health Risk Pathogenic Developmental disorder, Developmental disorder
RS866637461 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS866641122 LEPR Health Risk Likely pathogenic Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency
RS866649101 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS866656179 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS866656949 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS866658624 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS866662905 AARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS866663584 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS866677740 CDH23 Health Risk Pathogenic —
RS866679165 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Inborn genetic diseases
RS866681472 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
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