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
RS886054476 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2
RS886054497 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS886054498 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS886054546 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS886054570 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS886054573 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS886054576 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS886054579 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS886054580 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS886054608 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS886054618 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886054619 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886054694 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, See cases
RS886054703 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS886054710 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS886054712 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS886054715 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS886054755 NPHP1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 1, Nephronophthisis 1
RS886054757 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886054844 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS886054848 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS886054862 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS886054899 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS886054900 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Inborn genetic diseases
RS886054920 MMADHC Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism
RS886054923 MMADHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD
RS886054926 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS886054931 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886054937 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS886054938 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886054941 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886055000 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS886055028 TTC21B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Jeune thoracic dystrophy
RS886055029 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS886055042 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS886055043 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS886055051 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain
RS886055065 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS886055087 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS886055088 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS886055151 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS886055219 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS886055222 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS886055228 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS886055233 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886055234 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS886055235 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS886055237 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886055244 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS886055246 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS886055247 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS886055261 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886055267 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS886055279 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS886055281 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS886055284 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS886055285 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS886055286 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS886055291 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS886055292 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS886055297 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS886055301 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886055302 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS886055330 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS886055332 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS886055354 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS886055470 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS886055577 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS886055579 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS886055585 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS886055600 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886055601 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886055627 BCS1L Health Risk Conflicting classifications of pathogenicity Leigh syndrome, GRACILE syndrome
RS886055642 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS886055644 WNT10A Health Risk Conflicting classifications of pathogenicity Schöpf-Schulz-Passarge syndrome, Odonto-onycho-dermal dysplasia
RS886055667 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS886055695 CUL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886055742 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome 3b
RS886055770 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS886055803 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS886055807 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS886055808 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS886055836 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS886055838 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS886055840 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS886055842 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS886055875 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS886055880 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS886055903 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS886055929 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS886055930 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS886055932 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS886055933 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS886055962 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS886055983 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS886056030 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS886056033 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia 1
RS886056056 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS886056057 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS886056059 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
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