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
RS2518771193 PCNT Health Risk Pathogenic —
RS2518772307 PCNT Health Risk Pathogenic —
RS2518772442 PCNT Health Risk Pathogenic —
RS2518776413 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS2518776876 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518776911 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518776931 CDKL5 Health Risk Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518777731 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS2518777923 OFD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2518778078 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, OFD1-related disorder
RS2518781124 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518781128 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518781132 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518782641 PCNT Health Risk Pathogenic —
RS2518783144 TANGO2 Health Risk Pathogenic —
RS2518791065 TNFRSF13C Health Risk Pathogenic Immunodeficiency, common variable
RS2518817148 POLA1 Health Risk Likely pathogenic Inherited aplastic anemia, Inherited aplastic anemia
RS2518821166 OFD1 Health Risk Likely pathogenic OFD1-related disorder, OFD1-related disorder
RS2518822695 TANGO2 Health Risk Likely pathogenic —
RS2518826842 TANGO2 Health Risk Pathogenic —
RS2518828818 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518829375 PCNT Health Risk Pathogenic —
RS2518829616 PCNT Health Risk Pathogenic —
RS2518829736 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518831035 PCNT Health Risk Pathogenic —
RS2518831128 PCNT Health Risk Pathogenic —
RS2518834440 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518836614 MEI1 Health Risk Pathogenic —
RS2518844536 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518844542 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518844546 CDKL5 Health Risk Likely pathogenic —
RS2518844555 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518844612 CDKL5 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS2518847424 PCNT Health Risk Pathogenic —
RS2518847511 PCNT Health Risk Pathogenic —
RS2518849210 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518849265 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518849341 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518849359 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518851267 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518851309 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2518851314 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518851383 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518851425 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518853437 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518853500 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518853508 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518853529 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518853557 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518853563 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518853590 CDKL5 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518853631 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518857335 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS2518857357 CDKL5 Health Risk Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518857400 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518857411 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518857486 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518857515 CDKL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS2518857554 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518857883 OFD1 Health Risk Pathogenic Primary ciliary dyskinesia, Orofaciodigital syndrome I
RS2518864113 CDKL5 Health Risk Likely pathogenic Inborn genetic diseases, CDKL5 disorder
RS2518864177 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518864219 CDKL5 Health Risk Pathogenic/Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518864230 CDKL5 Health Risk Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518867690 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518868022 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518873766 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518873820 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518873890 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518873941 CDKL5 Health Risk Likely pathogenic Developmental delay, Developmental delay
RS2518874058 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518874157 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518874193 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518874530 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518874564 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518874652 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518875196 IL1RAPL1 Health Risk Likely pathogenic Intellectual disability, X-linked 21
RS2518875232 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518875266 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518875430 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518876819 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518877055 DEPDC5 Health Risk Pathogenic See cases, See cases
RS2518880323 CDKL5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518880329 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518880338 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518881185 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518881309 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518884246 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS2518884296 CLCN4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 49
RS2518884516 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS2518884524 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS2518884888 CDKL5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518884926 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2518884945 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518885322 CLCN4 Health Risk Pathogenic Intellectual disability, X-linked 49
RS2518885361 CLCN4 Health Risk Pathogenic Intellectual disability, X-linked 49
RS2518885418 CLCN4 Health Risk Pathogenic —
RS2518885499 CLCN4 Health Risk Pathogenic —
RS2518886198 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS2518886212 OFD1 Health Risk Pathogenic Primary ciliary dyskinesia, Joubert syndrome
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