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
RS2519442933 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2519443119 KDM5C Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2519444329 CLCN5 Health Risk Pathogenic —
RS2519444458 CLCN5 Health Risk Pathogenic —
RS2519444688 CLCN5 Health Risk Likely pathogenic CLCN5-related disorder, CLCN5-related disorder
RS2519444761 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2519445104 CLCN5 Health Risk Likely pathogenic CLCN5-related disorder, CLCN5-related disorder
RS2519445322 HDAC6 Health Risk Likely pathogenic X-linked dominant chondrodysplasia, Chassaing-Lacombe type
RS2519445562 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS2519445644 CLCN5 Health Risk Pathogenic —
RS2519445657 CLCN5 Health Risk Pathogenic —
RS2519446696 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2519447431 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS2519447785 PORCN Health Risk Likely pathogenic —
RS2519447958 PORCN Health Risk Likely pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2519448198 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519454937 PORCN Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2519455254 PORCN Health Risk Pathogenic PORCN-related disorder, PORCN-related disorder
RS2519460570 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2519467926 PORCN Health Risk Pathogenic Inborn genetic diseases, Focal dermal hypoplasia
RS2519471074 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2519471462 PORCN Health Risk Conflicting classifications of pathogenicity Focal dermal hypoplasia, Focal dermal hypoplasia
RS2519481019 DDX3X Health Risk Pathogenic —
RS2519481050 DDX3X Health Risk Likely pathogenic DDX3X-Related Neurodevelopmental Disorder, DDX3X-Related Neurodevelopmental Disorder
RS2519481125 PORCN Health Risk Pathogenic —
RS2519481237 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519481241 DDX3X Health Risk Likely pathogenic —
RS2519481481 PORCN Health Risk Likely pathogenic —
RS2519481642 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2519481658 PORCN Health Risk Pathogenic Focal dermal hypoplasia, PORCN-related disorder
RS2519485064 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519492005 PORCN Health Risk Likely pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2519501322 PLXNB2 Health Risk Pathogenic See cases, See cases
RS2519503706 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2519503836 SMPX Health Risk Likely pathogenic Hearing loss, X-linked 4
RS2519505486 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2519505671 DDX3X Health Risk Pathogenic —
RS2519505704 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519507210 KDM5C Health Risk Likely pathogenic —
RS2519508924 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2519508966 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519509156 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2519509450 DDX3X Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2519509534 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519509698 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2519511129 DDX3X Health Risk Pathogenic —
RS2519511153 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519511184 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2519511204 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519511257 DDX3X Health Risk Pathogenic —
RS2519511328 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2519511864 PORCN Health Risk Likely pathogenic PORCN-related disorder, PORCN-related disorder
RS2519513124 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2519513191 DDX3X Health Risk Likely pathogenic —
RS2519513269 DDX3X Health Risk Pathogenic —
RS2519513487 DDX3X Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2519514409 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519514556 DDX3X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 102
RS2519515024 DDX3X Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519515130 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2519515302 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519515362 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS2519515417 DDX3X Health Risk Pathogenic Medulloblastoma non-WNT/non-SHH group 3, Thyroid cancer
RS2519515591 KDM5C Health Risk Likely pathogenic KDM5C-related disorder, KDM5C-related disorder
RS2519516307 PHF8 Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS2519518432 DDX3X Health Risk Pathogenic —
RS2519518456 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS2519518577 DDX3X Health Risk Likely pathogenic —
RS2519518636 DDX3X Health Risk Pathogenic —
RS2519518660 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2519518686 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519518691 DDX3X Health Risk Likely pathogenic DDX3X-related disorder, DDX3X-related disorder
RS2519519238 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519519335 DDX3X Health Risk Conflicting classifications of pathogenicity —
RS2519519392 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519519443 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519519644 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519520021 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519522184 EBP Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2519522305 EBP Health Risk Likely pathogenic —
RS2519522330 EBP Health Risk Likely pathogenic —
RS2519522435 EBP Health Risk Likely pathogenic EBP-related disorder, EBP-related disorder
RS2519522630 DDX3X Health Risk Pathogenic —
RS2519522828 DDX3X Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2519522836 DDX3X Health Risk Likely pathogenic DDX3X-related disorder, DDX3X-related disorder
RS2519522876 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2519523067 DDX3X Health Risk Pathogenic —
RS2519523104 DDX3X Health Risk Pathogenic —
RS2519523215 DDX3X Health Risk Pathogenic —
RS2519523283 DDX3X Health Risk Pathogenic —
RS2519523296 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2519523399 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519523446 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519523562 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519524038 DDX3X Health Risk Pathogenic —
RS2519524120 DDX3X Health Risk Pathogenic —
RS2519524225 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519525465 DDX3X Health Risk Pathogenic —
RS2519525680 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2519525696 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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