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
RS2061653516 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Brugada syndrome 1
RS2061654524 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome
RS2061658179 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2061658738 SCN5A Health Risk Pathogenic —
RS2061661681 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2061661896 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2061687300 SCN5A Health Risk Likely pathogenic Long QT syndrome 3, Brugada syndrome 1
RS2061688760 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS2061701575 PORCN Health Risk Likely pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2061710859 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2061711476 PORCN Health Risk Pathogenic —
RS2061711638 PORCN Health Risk Conflicting classifications of pathogenicity Focal dermal hypoplasia, Focal dermal hypoplasia
RS2061714949 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS2061721973 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2061743269 ATP2B2 Health Risk Pathogenic —
RS2061745581 HUWE1 Health Risk Pathogenic Intellectual disability, X-linked syndromic
RS2061755379 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2061758031 COL4A4 Health Risk Pathogenic —
RS2061767463 MLC1 Health Risk Likely pathogenic —
RS2061771803 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS2061781897 EBP Health Risk Likely pathogenic —
RS2061782205 EBP Health Risk Pathogenic —
RS2061808524 USP7 Health Risk Pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2061840290 PRDM15 Health Risk Likely pathogenic Pervasive developmental disorder, Pervasive developmental disorder
RS2061841667 USP7 Health Risk Pathogenic Hao-Fountain syndrome due to USP7 mutation, Hao-Fountain syndrome due to USP7 mutation
RS2061843481 RTTN Health Risk Likely pathogenic —
RS2061854079 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2061855838 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2061856480 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2061880735 TCF3 Health Risk Pathogenic Agammaglobulinemia 8, autosomal dominant
RS2061886135 TTBK2 Health Risk Pathogenic —
RS2061958215 SCN5A Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS2061959730 FAN1 Health Risk Pathogenic —
RS2061972270 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2061993910 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2062007860 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2062008042 SCN5A Health Risk Pathogenic —
RS2062008854 SCN5A Health Risk Likely pathogenic Brugada syndrome 1, Brugada syndrome 1
RS2062020547 SCN5A Health Risk Pathogenic —
RS2062022344 SCN5A Health Risk Pathogenic —
RS2062027006 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2062043035 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2062046121 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2062047006 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2062048292 CTNND1 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Blepharocheilodontic syndrome 2
RS2062049610 CTNND1 Health Risk Pathogenic/Likely pathogenic Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
RS2062054043 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2062054591 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062057035 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062057713 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062057880 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS2062060149 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062064773 ADA2 Health Risk Pathogenic Sneddon syndrome, Sneddon syndrome
RS2062066871 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062067746 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2062067810 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062069547 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062076867 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2062077684 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2062078281 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2062079566 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2062087795 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2062087915 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062089336 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2062089925 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062090760 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062095528 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2062114611 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2062114648 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS2062115605 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062115822 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062118353 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2062118599 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2062156506 SCN5A Health Risk Pathogenic —
RS2062158779 SCN5A Health Risk Pathogenic —
RS2062169124 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062169220 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062169243 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2062169927 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS2062171554 FANCA Health Risk Conflicting classifications of pathogenicity FANCA-related disorder, Fanconi anemia
RS2062172011 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062172051 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2062172394 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2062172440 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2062172458 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2062186534 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2062200939 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2062203038 ATP2B2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS2062209732 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2062210802 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2062211067 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062220124 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2062239718 MLC1 Health Risk Pathogenic —
RS2062264317 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome
RS2062288510 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS2062290972 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS2062292476 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2062303387 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2062306727 TBCD Health Risk Pathogenic —
RS2062306921 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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