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
RS1167329263 PKLR Health Risk Likely pathogenic PKLR-related disorder, PKLR-related disorder
RS116733194 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS116733939 RDH12 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 13
RS1167362899 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS116736407 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCD2-related disorder
RS1167372383 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS1167380267 FAM161A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 28
RS1167384081 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1167385983 UNC93B1 Health Risk Pathogenic Herpes simplex encephalitis, susceptibility to
RS1167386243 CREB3L3 Health Risk Pathogenic Hypertriglyceridemia 2, Hypertriglyceridemia 2
RS116740320 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 8, Retinitis pigmentosa
RS116740510 KCNJ13;GIGYF2 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS1167405466 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1167407832 COL18A1 Health Risk Likely pathogenic —
RS1167411352 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Alport syndrome 3b
RS1167411868 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1167413684 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS116744687 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Congenital nephrotic syndrome
RS1167452184 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1167453314 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1167455690 USH2A Health Risk Pathogenic —
RS1167459243 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS1167459660 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1167469350 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1167473603 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS1167474602 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1167476946 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1167489264 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS1167495153 SCN5A Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1167495795 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS116750302 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS116750638 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS1167507020 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1167512470 SLC52A3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1167519702 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1167522067 ABCA3 Health Risk Pathogenic —
RS116753562 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1167538050 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS116753967 STRA6 Health Risk Conflicting classifications of pathogenicity Matthew-Wood syndrome, Matthew-Wood syndrome
RS1167540054 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Retinitis pigmentosa 39
RS1167571128 REN Health Risk Conflicting classifications of pathogenicity —
RS116757606 ANK3 Health Risk Conflicting classifications of pathogenicity ANK3-related disorder, ANK3-related disorder
RS116758113 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Nephronophthisis-like nephropathy 1
RS1167604511 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS116760648 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1167608859 MPZL2 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive 111
RS1167609100 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1167613754 CNGB1 Health Risk Likely pathogenic —
RS116763572 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS1167652701 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS116765281 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1167673455 VCAN Health Risk Pathogenic —
RS1167675604 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS1167687731 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1167693193 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1167697962 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS116771294 ZMPSTE24 Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy
RS1167715259 ASXL1 Health Risk Pathogenic ASXL1-related disorder, ASXL1-related disorder
RS1167718207 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1167718213 RRM2B Health Risk Likely pathogenic —
RS116772777 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS116774070 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS1167742176 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1167753426 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS116775353 CFAP61 Health Risk Pathogenic Spermatogenic failure 84, Spermatogenic failure 84
RS1167765853 AGRN Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1167783894 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1167787806 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1167794021 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1167814155 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1167814744 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS116781972 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Cardiovascular phenotype
RS1167826982 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1167848259 EMC1 Health Risk Pathogenic —
RS1167864898 NIN Health Risk Conflicting classifications of pathogenicity —
RS1167867158 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 8
RS1167872104 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS116788608 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1167886830 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1167894918 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1167901073 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1167911121 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1167914907 LCT Health Risk Pathogenic —
RS116791509 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1167920036 COL4A5 Health Risk Likely pathogenic —
RS1167928854 LMF1 Health Risk Pathogenic —
RS116794756 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS116796597 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS1167979935 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1167983525 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS1167993548 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS116800126 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS116802390 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 13, Retinal dystrophy
RS1168030930 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1168031047 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1168034376 AEBP1 Health Risk Pathogenic —
RS116803472 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS1168053730 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS116805550 BBS12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BBS12-related disorder
RS1168074679 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
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