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
RS2116842824 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS2116852322 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS2116854694 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS2116854732 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS2116855121 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2116855161 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2116855176 CLCN1 Health Risk Pathogenic —
RS2116864878 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS2116865174 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS2116880438 SGCE Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116880447 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116880537 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116880618 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116881189 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116881481 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116881558 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116882157 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116882526 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116916386 SEMA3E Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, SEMA3E-related disorder
RS2116916717 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2116917246 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116917821 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116918021 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116920835 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS2116921218 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116924115 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2116928557 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiac arrhythmia
RS2116928626 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS2116928723 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116928923 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116929283 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116929916 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116929974 KCNH2 Health Risk Pathogenic —
RS2116930765 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116931511 KCNH2 Health Risk Likely pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS2116931753 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116933379 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS2116933757 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2116933842 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome 2
RS2116937449 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116937500 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116937619 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116939192 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116939236 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116939333 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116939424 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116940231 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116940243 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116940397 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116940777 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2116941701 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS211694394 VPS37A Health Risk Pathogenic Hereditary spastic paraplegia 53, Hereditary spastic paraplegia 53
RS2116950615 KCNH2 Health Risk Pathogenic —
RS2116950992 KCNH2 Health Risk Likely pathogenic Cardiovascular phenotype, Long QT syndrome
RS2116954362 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116954409 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116954443 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116954525 KCNH2 Health Risk Pathogenic —
RS2116955668 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS2116958989 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116959244 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116960034 KCNH2 Health Risk Likely pathogenic —
RS2116960125 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS2116960605 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116960647 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2116960827 KCNH2 Health Risk Pathogenic Congenital long QT syndrome, Congenital long QT syndrome
RS2116961210 KCNH2 Health Risk Pathogenic —
RS2116962569 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116963916 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiac arrhythmia
RS2116964263 KCNH2 Health Risk Pathogenic Short QT syndrome type 1, Long QT syndrome 2
RS2116964889 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2116969765 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116971722 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116971776 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2116972508 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116972578 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116972912 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116987965 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2116989385 VPS50 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS2116992551 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS2116992583 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS2116997026 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2116998520 AGK Health Risk Pathogenic Cataract 38, Sengers syndrome
RS2116998812 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2116999316 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2117003430 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2117003707 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2117003824 KCNH2 Health Risk Pathogenic —
RS2117005326 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2117006178 KCNH2 Health Risk Likely pathogenic —
RS2117006599 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2117007319 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2117011246 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2117011733 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS2117011793 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2117011952 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2117015674 ASAH1 Health Risk Pathogenic —
RS2117018589 ASAH1 Health Risk Pathogenic ASAH1-related disorders, ASAH1-related disorders
RS2117019094 ASAH1 Health Risk Likely pathogenic —
RS2117021067 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
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