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
RS2149172338 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149172715 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149172789 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149174007 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149175323 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149175646 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149175874 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149175937 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149176119 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149176927 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149177611 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149181831 NFKB1 Health Risk Pathogenic Immunodeficiency, common variable
RS2149181883 NFKB1 Health Risk Pathogenic —
RS2149181968 NFKB1 Health Risk Pathogenic —
RS2149182005 NFKB1 Health Risk Likely pathogenic —
RS2149184604 NFKB1 Health Risk Likely pathogenic —
RS2149184630 NFKB1 Health Risk Likely pathogenic —
RS2149185686 MUTYH Health Risk Likely pathogenic —
RS2149186919 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149190155 NFKB1 Health Risk Pathogenic —
RS2149192562 NFKB1 Health Risk Likely pathogenic —
RS2149192634 NFKB1 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2149192665 NFKB1 Health Risk Pathogenic Immunodeficiency, common variable
RS2149192697 NFKB1 Health Risk Pathogenic —
RS2149199098 STIL Health Risk Likely pathogenic Microcephaly 7, primary
RS2149201245 WDFY3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2149203291 NFKB1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS2149203324 NFKB1 Health Risk Pathogenic —
RS2149203505 NFKB1 Health Risk Pathogenic —
RS2149203552 NFKB1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS2149205109 NFKB1 Health Risk Likely pathogenic —
RS2149206488 NFKB1 Health Risk Pathogenic —
RS2149208637 NFKB1 Health Risk Pathogenic —
RS2149220092 POMC Health Risk Likely pathogenic Obesity, Obesity
RS2149220731 NFKB1 Health Risk Likely pathogenic —
RS2149221544 CAMTA1 Health Risk Likely pathogenic —
RS2149221667 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2149221946 NFKB1 Health Risk Likely pathogenic —
RS2149222635 NFKB1 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2149227839 NFKB1 Health Risk Pathogenic —
RS2149230078 NFKB1 Health Risk Pathogenic —
RS2149230139 NFKB1 Health Risk Likely pathogenic —
RS2149231471 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149231722 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149234796 PROM1 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS2149244412 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149244602 DMD Health Risk Pathogenic —
RS2149244826 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149244988 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149245072 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149245252 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2149245287 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149245623 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149248633 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149249120 PROM1 Health Risk Pathogenic —
RS2149252891 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149253335 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149253473 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149254230 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149256470 LHX4 Health Risk Likely pathogenic See cases, See cases
RS2149256621 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149256695 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149256957 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2149257286 DMD Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2149257310 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149257421 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149258165 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS2149259725 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149260122 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS2149260739 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS2149262033 LARP7 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism, Alazami type
RS2149263256 LHX4 Health Risk Pathogenic —
RS2149263749 LARP7 Health Risk Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS2149263988 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2149264030 FRYL Health Risk Likely pathogenic FRYL-related disorder, FRYL-related disorder
RS2149264374 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2149264484 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2149265022 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2149265203 DMD Health Risk Pathogenic —
RS2149265753 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS2149265835 LARP7 Health Risk Pathogenic —
RS2149266119 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS2149266244 LARP7 Health Risk Pathogenic —
RS2149266450 LARP7 Health Risk Pathogenic —
RS2149266454 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149266489 LARP7 Health Risk Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS2149267082 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149267113 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149267795 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS2149267842 LARP7 Health Risk Pathogenic —
RS2149268621 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2149273784 DNMT3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2149277178 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149278721 LARP7 Health Risk Pathogenic —
RS2149286477 LARP7 Health Risk Pathogenic —
RS2149288272 MYO6 Health Risk Likely pathogenic Ear malformation, Ear malformation
RS2149288538 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS2149289125 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS2149298999 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149300394 DNMT3A Health Risk Pathogenic —
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