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
RS1602070472 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS1602070594 PORCN Health Risk Likely pathogenic Focal dermal hypoplasia, Thyroid cancer
RS1602071514 CFAP410 Health Risk Pathogenic Retinitis pigmentosa, Axial spondylometaphyseal dysplasia
RS1602071524 CFAP410 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1602072227 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Nonpapillary renal cell carcinoma
RS1602078393 PORCN Health Risk Pathogenic —
RS1602079277 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS1602080173 CFAP410 Health Risk Pathogenic —
RS1602085557 PORCN Health Risk Likely pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS1602088419 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1602090481 EBP Health Risk Pathogenic/Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS1602091152 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS1602093658 CFAP410 Health Risk Likely pathogenic Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia
RS1602096779 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1602099961 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Spastic paraplegia
RS1602119250 DDX3X Health Risk Pathogenic/Likely pathogenic —
RS1602119274 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS1602119305 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1602122138 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS1602122237 DDX3X Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1602123307 CLCN5 Health Risk Pathogenic —
RS1602124517 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1602125411 TBC1D25 Health Risk Likely pathogenic Oligospermia, Oligospermia
RS1602126956 DDX3X Health Risk Pathogenic —
RS1602126980 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS1602127262 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1602129221 DDX3X Health Risk Pathogenic —
RS1602129242 DDX3X Health Risk Pathogenic —
RS1602130188 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1602130230 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1602131169 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1602131321 DDX3X Health Risk Pathogenic —
RS1602131405 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1602131859 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1602131872 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS1602132216 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS1602134248 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1602134459 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1602134468 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS1602135698 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1602135779 DDX3X Health Risk Pathogenic —
RS1602135832 DDX3X Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS1602136301 DDX3X Health Risk Pathogenic —
RS1602136369 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS1602140936 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Thyroid cancer
RS1602143232 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1602143383 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1602143432 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1602143677 AR Health Risk Pathogenic —
RS1602144034 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS1602144059 SLC16A2 Health Risk Likely pathogenic —
RS1602144278 AR Health Risk Pathogenic —
RS1602144428 AR Health Risk Pathogenic —
RS1602144930 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS1602145926 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602145991 XK Health Risk Pathogenic McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
RS1602146767 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602147278 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1602147880 OGT Health Risk Pathogenic Intellectual disability, X-linked 106
RS1602148660 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1602152230 OGT Health Risk Pathogenic Intellectual disability, X-linked 106
RS1602155923 OGT Health Risk Likely pathogenic Intellectual disability, X-linked 106
RS1602157389 CLCN4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 49
RS1602158863 XK Health Risk Pathogenic McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
RS1602159120 XK Health Risk Pathogenic McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome
RS1602159841 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS1602163752 KDM5C Health Risk Pathogenic Rare genetic intellectual disability, Spastic paraplegia
RS1602169116 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS1602169535 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1602173465 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS1602175016 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS1602176146 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS1602176222 WAS Health Risk Pathogenic —
RS1602176299 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS1602177243 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS1602177562 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS1602177733 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS1602178087 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS1602178165 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS1602178184 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS1602178267 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, X-linked severe congenital neutropenia
RS1602178800 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS1602178952 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS1602179000 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS1602179794 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS1602179810 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS1602180020 WAS Health Risk Likely pathogenic —
RS1602180058 WAS Health Risk Pathogenic Thrombocytopenia 1, Thrombocytopenia 1
RS1602180478 NYX Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1602180791 NYX Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1602181006 NYX Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1602181043 NYX Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness 1A
RS1602181253 NYX Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1602182150 CYBB Health Risk Pathogenic —
RS1602183161 CYBB Health Risk Likely pathogenic —
RS1602183244 CYBB Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS1602183619 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1602183679 CYBB Health Risk Pathogenic —
RS1602183698 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1602183890 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
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