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
RS2148348451 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148348645 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148348931 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148348983 ADGRG1 Health Risk Pathogenic —
RS2148349819 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148349944 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148352851 F9 Health Risk Pathogenic HEMOPHILIA B BRANDENBURG, HEMOPHILIA B BRANDENBURG
RS2148352869 F9 Health Risk Pathogenic Hemophilia B leyden, Hemophilia B leyden
RS2148352878 F9 Health Risk Pathogenic Hemophilia B leyden, Hemophilia B leyden
RS2148353000 F9 Health Risk Conflicting classifications of pathogenicity Hereditary factor IX deficiency disease, Thrombophilia
RS2148353009 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS2148354097 GJB3 Health Risk Likely pathogenic —
RS2148355967 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS2148356172 F9 Health Risk Likely pathogenic —
RS2148356221 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2148357901 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2148358021 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2148358457 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148358474 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148358634 SLC6A8 Health Risk Pathogenic —
RS2148359722 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2148359769 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2148360598 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2148360995 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148361002 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148361006 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148361153 F9 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS2148361177 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148361240 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS2148362390 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS2148362786 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148362976 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148363006 SLC6A8 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Creatine transporter deficiency
RS2148363178 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148363211 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148363243 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Thyroid cancer
RS2148363661 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Inborn genetic diseases
RS2148363723 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148363775 SLC6A8 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2148363957 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148363973 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148364124 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148364156 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148364395 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148364489 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2148365710 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2148367245 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2148367254 F9 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS2148367304 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2148367725 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2148367882 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS2148367990 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2148368332 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2148368738 IKBKG Health Risk Likely pathogenic Immunodeficiency 33, Immunodeficiency 33
RS2148370601 BCAP31 Health Risk Pathogenic BCAP31-related disorder, BCAP31-related disorder
RS2148371451 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2148372150 ASH1L Health Risk Pathogenic —
RS2148373123 NBAS Health Risk Pathogenic —
RS2148373432 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS2148373642 FHL1 Health Risk Likely pathogenic Myopathy, reducing body
RS2148373814 FHL1 Health Risk Likely pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2148375467 FHL1 Health Risk Likely pathogenic X-linked myopathy with postural muscle atrophy, Nonpapillary renal cell carcinoma
RS2148375686 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2148375860 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2148376330 FHL1 Health Risk Pathogenic —
RS2148378327 TAF1 Health Risk Pathogenic —
RS2148378462 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2148378774 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2148382857 IKBKG Health Risk Pathogenic Autoinflammatory disease, X-linked
RS2148382861 IKBKG Health Risk Pathogenic Autoinflammatory disease, X-linked
RS2148383945 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2148384040 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2148385082 IKBKG Health Risk Likely pathogenic —
RS2148385109 IKBKG Health Risk Likely pathogenic —
RS2148385141 IKBKG Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS2148385355 IKBKG Health Risk Pathogenic Immunodeficiency 33, Immunodeficiency 33
RS2148386073 IKBKG Health Risk Likely pathogenic —
RS2148388506 ABCD1 Health Risk Likely pathogenic —
RS2148388526 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148388538 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148388645 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148388671 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148388674 ABCD1 Health Risk Likely pathogenic X-linked cerebral adrenoleukodystrophy, X-linked cerebral adrenoleukodystrophy
RS2148388737 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148388748 ABCD1 Health Risk Pathogenic —
RS2148388883 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148388971 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148388980 ABCD1 Health Risk Conflicting classifications of pathogenicity —
RS2148388986 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389007 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389181 ABCD1 Health Risk Pathogenic —
RS2148389233 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389338 ABCD1 Health Risk Likely pathogenic —
RS2148389350 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389462 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389513 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389516 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389537 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389592 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2148389670 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
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