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
RS1569190079 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1569190422 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1569190602 RPS6KA3 Health Risk Pathogenic Intellectual disability, X-linked 19
RS1569190962 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1569191372 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1569191659 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1569191879 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1569192251 AMER1 Health Risk Pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS1569192315 AMER1 Health Risk Pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS1569194036 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1569194162 RPS6KA3 Health Risk Pathogenic/Likely pathogenic Coffin-Lowry syndrome, Intellectual disability
RS1569197778 USP51 Health Risk Pathogenic Short stature, Short stature
RS1569198407 NEFH Health Risk Pathogenic —
RS1569200407 ZC4H2 Health Risk Likely pathogenic —
RS1569201595 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1569203234 CRYBB1 Health Risk Pathogenic Cataract 17 multiple types, Cataract 17 multiple types
RS1569203272 MEI1 Health Risk Pathogenic Hydatidiform mole, recurrent
RS1569203705 IL1RAPL1 Health Risk Pathogenic Intellectual disability, X-linked 21
RS1569206815 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1569208908 IL1RAPL1 Health Risk Pathogenic Intellectual disability, X-linked 21
RS1569211016 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS1569213054 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1569213903 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569213917 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1569214985 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1569215025 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1569215061 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS1569215212 GJB1 Health Risk Pathogenic —
RS1569215263 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1569215346 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS1569215351 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS1569215382 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS1569215413 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS1569215418 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS1569215424 GJB1 Health Risk Likely pathogenic —
RS1569215443 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1
RS1569215591 GJB1 Health Risk Likely pathogenic —
RS1569215594 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1569215629 CDKL5 Health Risk Pathogenic/Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1569215645 CDKL5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569215664 CDKL5 Health Risk Pathogenic —
RS1569215808 OPHN1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569216119 RPS6KA3 Health Risk Likely pathogenic Intellectual disability, X-linked 19
RS1569216588 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1569218019 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1569218064 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1569218119 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1569218416 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1569219331 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1569219346 CDKL5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569219844 CDKL5 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1569220550 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569220754 CDKL5 Health Risk Pathogenic/Likely pathogenic CDKL5 disorder, CDKL5 disorder
RS1569220925 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1569225454 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1569226110 CELSR1 Health Risk Likely pathogenic Lymphatic malformation, Lymphatic malformation
RS1569227576 CELSR1 Health Risk Likely pathogenic Lymphatic malformation 9, Lymphatic malformation
RS1569229528 DMD Health Risk Pathogenic —
RS1569229724 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS1569230006 CLCN4 Health Risk Pathogenic Intellectual disability, X-linked 49
RS1569230215 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569230293 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569230389 DMD Health Risk Pathogenic —
RS1569230406 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569230484 CLCN4 Health Risk Conflicting classifications of pathogenicity —
RS1569231336 CDKL5 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS1569231897 CLCN4 Health Risk Pathogenic Intellectual disability, X-linked 49
RS1569232705 DEPDC5 Health Risk Pathogenic Inborn genetic diseases, Familial focal epilepsy with variable foci
RS1569233549 CLCN4 Health Risk Pathogenic Intellectual disability, X-linked 49
RS1569234334 KIF4A Health Risk Likely pathogenic Corpus callosum, agenesis of
RS1569234653 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1569235565 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS1569235677 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, X-linked cone-rod dystrophy 1
RS1569235803 RPGR Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1569235999 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, RPGR-related retinopathy
RS1569236609 RPGR Health Risk Pathogenic —
RS1569236971 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, RPGR-related retinopathy
RS1569237077 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS1569237206 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa
RS1569237670 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS1569238002 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS1569238251 DDX3X Health Risk Likely pathogenic —
RS1569238659 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS1569239749 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1569240005 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1569240261 DDX3X Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569242061 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS1569242657 BRWD3 Health Risk Pathogenic —
RS1569243565 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1569243771 PLA2G6 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 2B
RS1569243931 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS1569244149 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1569244190 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1569244467 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS1569245569 BRWD3 Health Risk Pathogenic —
RS1569248367 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1569249294 PCNT Health Risk Pathogenic —
RS1569249386 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1569254004 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1569255443 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
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