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
RS2518889073 PCNT Health Risk Pathogenic —
RS2518889369 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS2518889391 CLCN4 Health Risk Pathogenic Intellectual disability, X-linked 49
RS2518890460 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518890612 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518892925 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS2518894988 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518895113 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518898617 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2518898936 CDKL5 Health Risk Likely pathogenic Autism, Autism
RS2518902732 TANGO2 Health Risk Pathogenic —
RS2518903115 TANGO2 Health Risk Conflicting classifications of pathogenicity Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
RS2518903706 TANGO2 Health Risk Likely pathogenic —
RS2518911065 OFD1 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS2518913677 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518913720 DEPDC5 Health Risk Pathogenic Epilepsy, Epilepsy
RS2518914339 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518914515 LARGE1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2518916282 RS1 Health Risk Pathogenic —
RS2518916683 RS1 Health Risk Likely pathogenic —
RS2518916750 RS1 Health Risk Conflicting classifications of pathogenicity —
RS2518919549 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2518919702 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2518919828 RS1 Health Risk Pathogenic —
RS2518919897 RS1 Health Risk Likely pathogenic —
RS2518919912 RS1 Health Risk Likely pathogenic Retinoschisis, Retinoschisis
RS2518919972 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Retinal dystrophy
RS2518920013 RS1 Health Risk Pathogenic —
RS2518920133 RS1 Health Risk Pathogenic —
RS2518920188 RS1 Health Risk Likely pathogenic —
RS2518922040 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2518924222 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS2518924265 RS1 Health Risk Likely pathogenic —
RS2518924597 RS1 Health Risk Pathogenic —
RS2518924877 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2518936401 PCNT Health Risk Pathogenic —
RS2518936483 PCNT Health Risk Pathogenic —
RS2518936830 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518937760 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS2518937898 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2518937903 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2518937907 RS1 Health Risk Pathogenic Retinal dystrophy, Juvenile retinoschisis
RS2518937939 RS1 Health Risk Pathogenic —
RS2518938556 RS1 Health Risk Pathogenic —
RS2518938579 RS1 Health Risk Pathogenic —
RS2518938588 RS1 Health Risk Pathogenic —
RS2518938589 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2518938857 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518939102 OFD1 Health Risk Likely pathogenic Joubert syndrome 10, Joubert syndrome 10
RS2518940054 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2518941201 IL1RAPL1 Health Risk Likely pathogenic Intellectual disability, X-linked 21
RS2518949706 CRYBB1 Health Risk Likely pathogenic Cataract 17 multiple types, Cataract 17 multiple types
RS2518959444 MID1 Health Risk Likely pathogenic MID1-related disorder, MID1-related disorder
RS2518959446 MID1 Health Risk Likely pathogenic —
RS2518959653 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2518959749 MID1 Health Risk Pathogenic —
RS2518959924 MID1 Health Risk Pathogenic —
RS2518960109 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2518961833 PCNT Health Risk Likely pathogenic —
RS2518961996 PCNT Health Risk Pathogenic —
RS2518962146 PCNT Health Risk Pathogenic —
RS2518964320 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type
RS2518967010 CASK Health Risk Likely pathogenic —
RS2518967233 TSPAN7 Health Risk Pathogenic Intellectual disability, X-linked 58
RS2518967628 CASK Health Risk Conflicting classifications of pathogenicity FG syndrome 4, Intellectual disability
RS2518968722 MID1 Health Risk Pathogenic —
RS2518968860 MID1 Health Risk Likely pathogenic MID1-related disorder, MID1-related disorder
RS2518971630 PCNT Health Risk Pathogenic —
RS2518971757 PCNT Health Risk Likely pathogenic PCNT-related disorder, PCNT-related disorder
RS2518971989 PCNT Health Risk Pathogenic —
RS2518972048 PCNT Health Risk Pathogenic —
RS2518972061 PCNT Health Risk Likely pathogenic —
RS2518975185 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2518976938 DEPDC5 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS2518988414 FANCB Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2518988749 FANCB Health Risk Likely pathogenic FANCB-related disorder, FANCB-related disorder
RS2518989900 PCNT Health Risk Pathogenic —
RS2518993152 MID1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518993205 FANCB Health Risk Likely pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS2518993366 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2518995848 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518995993 PCNT Health Risk Likely pathogenic —
RS2518998297 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS2519009603 FANCB Health Risk Pathogenic/Likely pathogenic FANCB-related disorder, Fanconi anemia
RS2519010488 PCNT Health Risk Pathogenic —
RS2519011688 PCNT Health Risk Pathogenic —
RS2519011733 PCNT Health Risk Pathogenic —
RS2519011748 FANCB Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2519011808 PCNT Health Risk Pathogenic —
RS2519013136 PCNT Health Risk Pathogenic —
RS2519016619 MID1 Health Risk Pathogenic —
RS2519016906 GSS Health Risk Likely pathogenic Inherited glutathione synthetase deficiency, Inherited glutathione synthetase deficiency
RS2519019498 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519019647 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519020812 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519026353 GSS Health Risk Likely pathogenic GSS-related disorder, GSS-related disorder
RS2519026632 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519026756 GSS Health Risk Likely pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519031166 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS2519031249 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
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