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
RS2117028700 AGK Health Risk Pathogenic —
RS2117037405 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS2117037641 ASAH1 Health Risk Pathogenic —
RS2117040123 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2117047219 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS2117059286 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS2117062104 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2117062166 ASAH1 Health Risk Likely pathogenic —
RS2117062748 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS2117062966 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2117063981 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2117072529 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2117072537 KCNH2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2117072612 STAG3 Health Risk Pathogenic Premature ovarian failure 8, Premature ovarian failure 8
RS2117072681 KCNH2 Health Risk Pathogenic —
RS2117072816 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2117078394 ASAH1 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2117107162 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS2117107396 ASAH1 Health Risk Pathogenic —
RS2117113363 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2117113573 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2117124779 SHH Health Risk Likely pathogenic —
RS2117124880 SHH Health Risk Likely pathogenic —
RS2117124904 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS2117125420 SHH Health Risk Likely pathogenic —
RS2117126444 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117126655 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Holoprosencephaly 3
RS2117128026 SHH Health Risk Likely pathogenic —
RS2117128881 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS2117129739 ABCB1 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS2117137466 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2117139699 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2117151246 SHH Health Risk Likely pathogenic —
RS2117166318 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis, distal
RS2117166533 ATP6V0A4 Health Risk Pathogenic Distal renal tubular acidosis, Distal renal tubular acidosis
RS2117168257 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117170464 RELN Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS2117188195 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117189408 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117204949 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117205170 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117206210 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2117208388 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117226120 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 88, Retinal dystrophy
RS2117248586 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117254540 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS2117254954 RELN Health Risk Pathogenic —
RS2117255104 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS2117255208 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117255599 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F
RS2117256073 NEFL Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 1F
RS2117291505 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS2117315457 STAG3 Health Risk Likely pathogenic Non-obstructive azoospermia, Premature ovarian insufficiency
RS2117331664 STAG3 Health Risk Likely pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS2117333857 STAG3 Health Risk Pathogenic Spermatogenic failure 61, Spermatogenic failure 61
RS2117348851 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2117350995 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2117399949 STAG3 Health Risk Likely pathogenic —
RS2117434759 AKR1D1 Health Risk Likely pathogenic —
RS2117509052 CPA1 Health Risk Likely pathogenic —
RS2117524953 STAG3 Health Risk Pathogenic PRIMARY OVARIAN FAILURE 8, PRIMARY OVARIAN FAILURE 8
RS2117674119 CEP41 Health Risk Pathogenic Joubert syndrome 15, Joubert syndrome 15
RS2117943840 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2117944381 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS2117946757 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117947811 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2117947928 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2117949826 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117951765 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117953276 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117954271 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117955248 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2117955781 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2117956624 PTCH1 Health Risk Pathogenic Basal cell nevus syndrome 1, Basal cell nevus syndrome 1
RS2117957845 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117958655 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2117960287 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117963353 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117965922 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117966753 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117967310 NANS Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS2117970002 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117970934 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117973287 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117975028 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2117976305 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2117998071 RORB Health Risk Pathogenic —
RS2118015234 TMC1 Health Risk Likely pathogenic —
RS2118020615 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2118026370 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118027397 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118027698 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118030407 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118031073 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118033907 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118034227 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2118037130 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2118041703 PTCH1 Health Risk Pathogenic Basal cell nevus syndrome 1, Basal cell nevus syndrome 1
RS2118044176 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS2118044447 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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