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
RS2527327500 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527327569 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527327584 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS2527327592 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527327612 FH Health Risk Likely pathogenic —
RS2527328347 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS2527332379 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527332427 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527332504 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527332571 FH Health Risk Pathogenic —
RS2527332585 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS2527332608 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527332795 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527332800 FH Health Risk Pathogenic —
RS2527332814 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527332897 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527335176 FH Health Risk Likely pathogenic Fumarase deficiency, Fumarase deficiency
RS2527335211 FH Health Risk Pathogenic —
RS2527335224 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527335251 FH Health Risk Pathogenic —
RS2527335338 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527335439 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527340114 FH Health Risk Likely pathogenic —
RS2527340172 FH Health Risk Pathogenic —
RS2527340210 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527340288 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS2527340320 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527341649 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527344866 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527345537 FH Health Risk Likely pathogenic Fumarase deficiency, Fumarase deficiency
RS2527345547 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527345613 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS2527347805 ASPM Health Risk Likely pathogenic —
RS2527352424 ASPM Health Risk Pathogenic —
RS2527355524 ASPM Health Risk Pathogenic —
RS2527358629 EGLN1 Health Risk Pathogenic Erythrocytosis, familial
RS2527360102 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS2527360670 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS2527361700 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS2527363360 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527363381 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527363448 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527363613 LYST Health Risk Pathogenic Inborn genetic diseases, Chédiak-Higashi syndrome
RS2527363889 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527364187 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527364273 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527364709 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527366225 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2527366256 ASPM Health Risk Pathogenic —
RS2527368289 ASPM Health Risk Likely pathogenic —
RS2527377406 ASPM Health Risk Pathogenic —
RS2527377771 ASPM Health Risk Pathogenic —
RS2527380441 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527380452 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527382078 ASPM Health Risk Pathogenic —
RS2527386785 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527387206 ADAM17 Health Risk Likely pathogenic Inflammatory skin and bowel disease, neonatal
RS2527395336 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS2527402086 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527402182 ASPM Health Risk Pathogenic —
RS2527402190 ASPM Health Risk Pathogenic ASPM-related disorder, ASPM-related disorder
RS2527402336 ASPM Health Risk Pathogenic —
RS2527402674 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527403784 KIDINS220 Health Risk Pathogenic Spastic paraplegia, intellectual disability
RS2527403805 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2527403897 ASPM Health Risk Pathogenic —
RS2527405766 ASPM Health Risk Pathogenic —
RS2527405925 ASPM Health Risk Pathogenic —
RS2527406250 KIDINS220 Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Spastic paraplegia
RS2527406464 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527407129 KIDINS220 Health Risk Likely pathogenic Spastic paraplegia, intellectual disability
RS2527407498 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527408276 KDM5B Health Risk Likely pathogenic —
RS2527408768 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2527411037 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS2527411857 KDM5B Health Risk Likely pathogenic KDM5B-related disorder, KDM5B-related disorder
RS2527412530 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527417596 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527417604 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527417689 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527417807 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527417930 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527421668 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS2527424311 KIDINS220 Health Risk Likely pathogenic —
RS2527424387 KIDINS220 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527424554 KIDINS220 Health Risk Likely pathogenic —
RS2527424853 HUWE1 Health Risk Likely pathogenic —
RS2527426205 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS2527427721 KIDINS220 Health Risk Pathogenic —
RS2527429518 USH2A Health Risk Pathogenic —
RS2527429789 USH2A Health Risk Pathogenic —
RS2527429907 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2527429954 USH2A Health Risk Likely pathogenic —
RS2527433418 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527433429 USH2A Health Risk Pathogenic —
RS2527433665 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527433682 USH2A Health Risk Pathogenic —
RS2527433698 USH2A Health Risk Pathogenic —
RS2527433742 USH2A Health Risk Pathogenic —
RS2527433750 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
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