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
RS2146822039 NPHS1 Health Risk Likely pathogenic —
RS2146822068 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS2146822162 NPHS1 Health Risk Likely pathogenic —
RS2146822164 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146822389 CEP250 Health Risk Pathogenic —
RS2146822662 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146823207 NPHS1 Health Risk Pathogenic —
RS2146823273 NPHS1 Health Risk Likely pathogenic —
RS2146823441 NPHS1 Health Risk Pathogenic —
RS2146823645 NPHS1 Health Risk Pathogenic —
RS2146824388 NPHS1 Health Risk Likely pathogenic —
RS2146826513 NPHS1 Health Risk Pathogenic —
RS2146827068 NPHS1 Health Risk Pathogenic —
RS2146827117 NPHS1 Health Risk Likely pathogenic —
RS2146827686 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146828046 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146828438 KDM5C Health Risk Likely pathogenic —
RS2146828473 NPHS1 Health Risk Pathogenic —
RS2146828521 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146828842 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2146829967 NPHS1 Health Risk Likely pathogenic —
RS2146830032 SHANK3 Health Risk Likely pathogenic —
RS2146830385 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2146830613 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2146831183 NPHS1 Health Risk Pathogenic —
RS2146831207 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2146831793 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2146831931 NPHS1 Health Risk Pathogenic —
RS2146831964 TMEM94 Health Risk Pathogenic Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
RS2146832020 NPHS1 Health Risk Pathogenic —
RS2146832070 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Schizophrenia 15
RS2146832176 DMD Health Risk Pathogenic —
RS2146832177 SHANK3 Health Risk Pathogenic —
RS2146832853 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2146833064 SHANK3 Health Risk Pathogenic —
RS2146833113 KDM5C Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146833198 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2146833477 DMD Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2146833570 SHANK3 Health Risk Pathogenic —
RS2146833747 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2146834311 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2146834483 XK Health Risk Pathogenic/Likely pathogenic McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
RS2146834557 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146834581 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146834690 XK Health Risk Pathogenic McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
RS2146836134 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2146837810 KDM5C Health Risk Pathogenic Spastic paraplegia, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146839603 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146843340 SHANK3 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2146844008 SHANK3 Health Risk Likely pathogenic —
RS2146844343 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146846673 ANOS1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146848829 KDM5C Health Risk Pathogenic —
RS2146851322 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Spastic paraplegia
RS2146851519 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146852767 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146853021 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2146853282 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146854677 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146854993 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146856395 TMPRSS15 Health Risk Pathogenic Enterokinase deficiency, Enterokinase deficiency
RS2146858081 MLC1 Health Risk Pathogenic —
RS2146859220 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2146866687 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2146866795 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2146867849 KDM5C Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2146867887 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146868023 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146868509 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS2146868820 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2146869427 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146869444 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146871313 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146871865 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146872050 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2146872060 BCOR Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2146872522 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2146873271 NF2 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 2
RS2146873791 GP6 Health Risk Pathogenic Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11
RS2146878120 HUWE1 Health Risk Pathogenic Intellectual disability, X-linked syndromic
RS2146887806 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2146890750 BCOR Health Risk Likely pathogenic BCOR-related disorder, BCOR-related disorder
RS2146892080 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2146892731 NF2 Health Risk Likely pathogenic —
RS2146892921 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146894322 NF2 Health Risk Likely pathogenic —
RS2146894926 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146895235 NF2 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 2
RS2146901330 TLK2 Health Risk Pathogenic See cases, See cases
RS2146905135 MLC1 Health Risk Pathogenic —
RS2146908500 MLC1 Health Risk Likely pathogenic —
RS2146911959 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2146913390 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS2146914606 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146914735 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146915737 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146915836 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2146916049 KDM5C Health Risk Pathogenic —
RS2146919105 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2146919128 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
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