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
RS2147142645 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147143428 CNKSR2 Health Risk Pathogenic Intellectual disability, X-linked
RS2147143992 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2147144038 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS2147144049 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147144421 FRMPD4 Health Risk Likely pathogenic Intellectual disability, X-linked 104
RS2147145062 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2147145500 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2147145565 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2147145603 CDKL5 Health Risk Likely pathogenic CDKL5 disorder, CDKL5 disorder
RS2147145614 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147145827 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2147147064 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2147147959 CDKL5 Health Risk Likely pathogenic —
RS2147147996 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147148013 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2147148016 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS2147148032 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147148055 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147148081 CDKL5 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS2147148092 CDKL5 Health Risk Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147148112 LOC126863186;PPP6R2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS2147151004 TANC2 Health Risk Pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2147151260 CASK Health Risk Pathogenic —
RS2147153521 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147153531 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147154554 EBP Health Risk Pathogenic —
RS2147154613 EBP Health Risk Pathogenic —
RS2147154755 EBP Health Risk Likely pathogenic —
RS2147154765 EBP Health Risk Pathogenic/Likely pathogenic —
RS2147154775 EBP Health Risk Pathogenic —
RS2147154777 EBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2147155759 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2147156094 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147156107 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147156191 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147156320 EBP Health Risk Likely pathogenic —
RS2147156501 EBP Health Risk Pathogenic —
RS2147156561 EBP Health Risk Likely pathogenic —
RS2147157078 EBP Health Risk Pathogenic —
RS2147160087 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147160115 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147160162 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147160237 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147160283 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147160726 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147160749 CDKL5 Health Risk Pathogenic/Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147160886 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147160920 CDKL5 Health Risk Pathogenic —
RS2147160942 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS2147161009 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147161299 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147161353 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147163808 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS2147164011 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147164144 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147164191 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147164417 PI4KA Health Risk Likely pathogenic Polymicrogyria, perisylvian
RS2147164676 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS2147164710 CDKL5 Health Risk Pathogenic —
RS2147164893 CEP250 Health Risk Pathogenic —
RS2147165095 TLK2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 57
RS2147165727 TLK2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 57
RS2147167432 CLCN4 Health Risk Pathogenic Intellectual disability, X-linked 49
RS2147167570 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147167604 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147168097 USP9X Health Risk Likely pathogenic —
RS2147168716 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147169894 RBM10 Health Risk Likely pathogenic —
RS2147170755 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2147171118 PHEX Health Risk Pathogenic —
RS2147171155 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147171181 PHEX Health Risk Pathogenic —
RS2147171209 PHEX Health Risk Pathogenic —
RS2147171210 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS2147171235 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS2147172268 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2147173819 CLCN4 Health Risk Pathogenic —
RS2147174157 CEP250 Health Risk Pathogenic —
RS2147174292 FRMPD4 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147174336 PHEX Health Risk Pathogenic —
RS2147174436 PHEX Health Risk Pathogenic —
RS2147174461 PHEX Health Risk Pathogenic —
RS2147174479 PHEX Health Risk Pathogenic —
RS2147174526 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147174569 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147174604 PHEX Health Risk Pathogenic —
RS2147174618 PHEX Health Risk Pathogenic —
RS2147175251 TUBGCP6 Health Risk Pathogenic —
RS2147175318 DMD Health Risk Likely pathogenic —
RS2147175359 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS2147175548 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147175902 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147176072 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147176325 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147176710 DMD Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2147176806 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2147177179 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147177201 TUBGCP6 Health Risk Pathogenic —
RS2147177418 TUBGCP6 Health Risk Pathogenic —
« Prev 1 ... 1880 1881 1882 1883 1884 1885 1886 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →