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
RS121909668 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS121909669 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS121909671 FUS Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS121909672 GABRG2 Health Risk Pathogenic Febrile seizures, familial
RS121909673 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS121909674 GABRG2 Health Risk Pathogenic Febrile seizures, familial
RS121909675 GGCX Health Risk Pathogenic Vitamin K-dependent clotting factors, combined deficiency of
RS121909676 GGCX Health Risk Pathogenic Vitamin K-dependent clotting factors, combined deficiency of
RS121909677 GGCX Health Risk Pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
RS121909678 GGCX Health Risk Pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
RS121909679 GGCX Health Risk Pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
RS121909680 GGCX Health Risk Pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
RS121909681 GGCX Health Risk Pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
RS121909682 GGCX Health Risk Pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
RS121909683 GGCX Health Risk Pathogenic/Likely pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Vitamin K-dependent clotting factors
RS121909715 GSN Health Risk Pathogenic/Likely pathogenic Finnish type amyloidosis, Inborn genetic diseases
RS121909717 GFAP Health Risk Pathogenic Alexander disease, Inborn genetic diseases
RS121909718 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS121909719 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS121909720 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS121909721 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome
RS121909722 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS121909723 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
RS121909724 MPV17 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS121909726 NR3C1 Health Risk Pathogenic GLUCOCORTICOID RESISTANCE, CELLULAR
RS121909727 NR3C1 Health Risk Pathogenic Glucocorticoid resistance, Glucocorticoid resistance
RS121909730 GLUD1 Health Risk Pathogenic/Likely pathogenic Hyperinsulinism-hyperammonemia syndrome, Familial hyperinsulinemia
RS121909731 GLUD1 Health Risk Pathogenic Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS121909733 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS121909734 GLUD1 Health Risk Likely pathogenic Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS121909735 GLUD1 Health Risk Pathogenic Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS121909736 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS121909737 GLUD1 Health Risk Pathogenic/Likely pathogenic Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS121909739 SLC2A1 Health Risk Pathogenic Childhood onset GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 1
RS121909740 SLC2A1 Health Risk Pathogenic/Likely pathogenic Childhood onset GLUT1 deficiency syndrome 2, Encephalopathy due to GLUT1 deficiency
RS121909741 SLC2A2 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS121909742 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS121909743 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS121909744 SLC2A2 Health Risk Pathogenic/Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS121909745 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS121909746 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS121909747 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS121909748 CFB Health Risk Pathogenic Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome
RS121909749 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS121909750 GP1BB Health Risk Conflicting classifications of pathogenicity MACROTHROMBOCYTOPENIA, FAMILIAL
RS121909751 GP1BB Health Risk Pathogenic MACROTHROMBOCYTOPENIA, FAMILIAL
RS121909752 GP1BB Health Risk Likely pathogenic Bernard-Soulier syndrome, type B
RS121909761 ADGRV1 Health Risk Pathogenic Febrile seizures, familial
RS121909762 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Usher syndrome
RS121909763 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS121909764 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS121909765 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS121909766 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS121909767 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS121909768 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS121909770 SIX1 Health Risk Pathogenic Branchiootic syndrome 3, Branchiootic syndrome 3
RS121909775 CASP10 Health Risk Pathogenic Non-Hodgkin lymphoma, Gastric cancer
RS121909790 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909791 VDR Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909792 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909793 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909794 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909795 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909796 VDR Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909797 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909798 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909800 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909801 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909802 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS121909803 HBA2 Health Risk Pathogenic Hemoglobin H disease, nondeletional
RS121909833 NSDHL Health Risk Pathogenic CK syndrome, CK syndrome
RS121909834 NSDHL Health Risk Pathogenic CK syndrome, CK syndrome
RS121909835 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinal dystrophy
RS1219104992 PCARE Health Risk Pathogenic —
RS1219118149 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS121912195 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS121912243 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Inborn genetic diseases
RS121912244 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912253 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912267 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912268 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912274 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912277 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912278 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912280 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912281 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912282 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912283 CHRNA4 Health Risk Conflicting classifications of pathogenicity Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy
RS121912288 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS121912289 DKC1 Health Risk Likely pathogenic Dyskeratosis congenita, X-linked
RS121912290 DKC1 Health Risk Likely pathogenic Dyskeratosis congenita, X-linked
RS121912292 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS121912293 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS121912294 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS121912295 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS121912297 DKC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, X-linked
RS121912303 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, X-linked
RS121912304 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS121912305 DKC1 Health Risk Conflicting classifications of pathogenicity Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenita
RS121912307 MAFB Health Risk Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness
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