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
RS2494757458 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494758555 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494758617 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494759199 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494759451 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494760163 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2494760278 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494760363 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency
RS2494760396 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494760674 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494760982 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494761283 RAG1 Health Risk Pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494761308 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494762182 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494762661 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494763949 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2494765841 HPS5 Health Risk Pathogenic —
RS2494767083 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2494768200 CHST3 Health Risk Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2494771271 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2494772065 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2494783688 PDHX Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2494786655 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494787994 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2494788127 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494788285 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494788679 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494789497 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494790291 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2494790882 RAG2 Health Risk Likely pathogenic —
RS2494790954 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494791063 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494791448 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2494791806 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494791825 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS2494792018 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS2494793071 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS2494794279 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS2494794434 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2494795418 RAG2 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494797251 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494797733 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Inborn genetic diseases
RS2494798051 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS2494798134 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494799074 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2494799242 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS2494799758 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494799990 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494800093 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2494800686 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS2494800701 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS2494801025 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494825871 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2494853019 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS2494859893 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS2494861863 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS2494863251 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS2494864133 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS2494865086 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS2494866075 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group F
RS2494867744 FANCF Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS2494868833 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS2494869728 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2494870839 FANCF Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS2494871401 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2494871663 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2494874800 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8B
RS2494889270 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS2494892546 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2494894653 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2494894758 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2494901293 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2
RS2494902317 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2494905042 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2494905864 PEX16 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Ovarian serous cystadenocarcinoma
RS2494908941 PEX16 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2494917564 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2495021186 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495048635 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS2495048806 TMX2 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, cortical malformations
RS2495056510 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2495061780 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS2495062112 PAX6 Health Risk Pathogenic Congenital aniridia, Congenital aniridia
RS2495062228 SLC25A22 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2495066264 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2495069375 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2495074114 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2495077510 PAX6 Health Risk Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2495078256 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS2495097530 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2495102207 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495105858 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2495115392 PAX6 Health Risk Pathogenic —
RS2495116340 PAX6 Health Risk Pathogenic —
RS2495121485 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495121695 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS2495122596 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495123636 PAX6 Health Risk Pathogenic Coloboma, ocular
RS2495134983 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2495137682 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
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