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
RS2516811898 SCAF4 Health Risk Likely pathogenic Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
RS2516812393 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS2516812694 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516814024 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516814422 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516815693 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516816762 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516817630 RUNX1 Health Risk Likely pathogenic Atypical chronic myeloid leukemia, BCR-ABL1 negative
RS2516818506 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516819138 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516819257 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516819502 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516820446 RUNX1 Health Risk Likely pathogenic RUNX1-related disorder, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516822206 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516824139 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516825380 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516825700 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516826656 CACNA1C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2516829857 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516840293 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516840344 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516840809 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516841193 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516841458 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516850088 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS2516850136 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS2516850368 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS2516851519 KCNB1 Health Risk Pathogenic —
RS2516851569 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS2516851607 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS2516851652 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2516851803 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2516851908 KCNB1 Health Risk Likely pathogenic KCNB1-related disorder, KCNB1-related disorder
RS2516851941 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS2516852313 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS2516852481 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS2516852776 TMPRSS15 Health Risk Likely pathogenic —
RS2516853033 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516853102 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516853374 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516853620 HLCS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2516853656 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516853783 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516861844 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516861944 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2516867559 IFNAR1 Health Risk Pathogenic —
RS2516867646 IFNAR1 Health Risk Pathogenic —
RS2516867725 IFNAR1 Health Risk Pathogenic —
RS2516867828 IFNAR1 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS2516869613 MRAP Health Risk Pathogenic Glucocorticoid deficiency 2, Glucocorticoid deficiency 2
RS2516870215 NEDD4L Health Risk Conflicting classifications of pathogenicity —
RS2516871917 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516872094 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516872518 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516872544 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516872606 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516872951 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516873033 DSCAM Health Risk Likely pathogenic DSCAM-related disorder, DSCAM-related disorder
RS2516873177 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516880373 IFNAR1 Health Risk Likely pathogenic —
RS2516880393 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516880424 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2516881002 IFNAR1 Health Risk Likely pathogenic —
RS2516885537 IFNAR1 Health Risk Pathogenic —
RS2516887030 IFNAR1 Health Risk Likely pathogenic Immunodeficiency 106, susceptibility to viral infections
RS2516902294 GNAS Health Risk Likely pathogenic See cases, See cases
RS2516902375 GNAS Health Risk Pathogenic —
RS2516962940 IFNGR2 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS2516964679 SIK1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 30
RS2516965790 SIK1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 30
RS2516966428 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS2516973680 GNAS Health Risk Likely pathogenic McCune-Albright syndrome, McCune-Albright syndrome
RS2516986131 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2516988200 COL6A2 Health Risk Likely pathogenic —
RS2516989781 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2516992827 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2516992917 COL6A2 Health Risk Pathogenic BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE
RS2516992989 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2516994367 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2516994656 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2516995291 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2516996260 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2516996853 COL6A2 Health Risk Likely pathogenic —
RS2516996865 ERG Health Risk Pathogenic Lymphatic malformation 14, Lymphatic malformation 14
RS2516997121 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2516997223 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2516997347 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2516997727 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS2516997767 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2516998156 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2516999509 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2516999821 COL6A2 Health Risk Conflicting classifications of pathogenicity COL6A2-related disorder, Bethlem myopathy 1A
RS2517002190 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2517003272 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2517005048 COL6A2 Health Risk Pathogenic Bethlem myopathy 1B, Bethlem myopathy 1B
RS2517005999 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2517006827 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2517006899 COL6A2 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1B, Ullrich congenital muscular dystrophy 1B
RS2517009429 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2517009442 COL6A2 Health Risk Pathogenic —
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