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
RS2146775487 TRAPPC2 Health Risk Likely pathogenic —
RS2146776296 TRAPPC2 Health Risk Likely pathogenic —
RS2146776508 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2146785767 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146785809 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146786648 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146786666 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146788855 NEDD4L Health Risk Likely pathogenic —
RS2146792205 CEP250 Health Risk Pathogenic —
RS2146794652 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2146796828 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146801880 CYBB Health Risk Likely pathogenic —
RS2146801885 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146801935 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146801939 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146801959 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146803092 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146804063 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146804825 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2146805381 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146807050 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146807429 NPHS1 Health Risk Likely pathogenic —
RS2146807976 NPHS1 Health Risk Pathogenic —
RS2146808453 SHANK3 Health Risk Pathogenic —
RS2146810198 CYBB Health Risk Pathogenic —
RS2146810272 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS2146810847 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146811730 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146811786 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146811863 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146812210 NPHS1 Health Risk Pathogenic —
RS2146812253 NPHS1 Health Risk Likely pathogenic —
RS2146812849 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS2146813259 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2146813509 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS2146813554 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2146813598 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2146813607 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS2146813611 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS2146813622 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146813670 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS2146813695 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2146813711 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS2146813723 CYBB Health Risk Pathogenic —
RS2146813725 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146813743 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146813757 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS2146813774 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146813797 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2146813832 KCNB1 Health Risk Likely pathogenic —
RS2146813853 KCNB1 Health Risk Pathogenic —
RS2146813885 KCNB1 Health Risk Likely pathogenic —
RS2146813951 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2146813954 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2146813980 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS2146814335 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS2146814454 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS2146815883 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146815940 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146816256 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146816347 NPHS1 Health Risk Pathogenic —
RS2146816353 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146817045 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146817067 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS2146817094 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146817108 ANOS1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146817110 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146817170 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146817207 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146817260 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146817275 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146817773 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2146817932 CYBB Health Risk Pathogenic —
RS2146818057 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146818103 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146818902 NPHS1 Health Risk Likely pathogenic —
RS2146819027 KDM5C Health Risk Likely pathogenic —
RS2146819053 HPS4 Health Risk Likely pathogenic —
RS2146819139 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146819334 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146819513 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146819530 NPHS1 Health Risk Likely pathogenic —
RS2146819649 DMD Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS2146819794 NPHS1 Health Risk Likely pathogenic —
RS2146819844 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146819931 NPHS1 Health Risk Pathogenic —
RS2146820376 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146820641 KDM5C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2146821009 NPHS1 Health Risk Pathogenic —
RS2146821097 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146821137 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2146821175 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146821257 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146821316 KDM5C Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Claes-Jensen type, Spastic paraplegia
RS2146821542 DMD Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2146821772 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146821851 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146821938 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146822012 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146822029 CYBB Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
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