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
RS2139291763 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2139297782 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2139308896 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome type 2
RS2139311251 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2139312594 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome type 2
RS2139319836 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2139331878 PNP Health Risk Likely pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS2139335095 PNP Health Risk Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS2139335365 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS2139338450 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS2139350315 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS2139363710 CDC42BPB Health Risk Pathogenic —
RS2139383000 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2139383552 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2139383657 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2139387978 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2139388180 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS2139388749 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2139394672 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2139394686 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2139397147 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2139397506 SUPT16H Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
RS2139399670 SUPT16H Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
RS2139400485 CDC42BPB Health Risk Likely pathogenic —
RS2139402444 SUPT16H Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
RS2139403510 SUPT16H Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
RS2139405459 NKX2-1 Health Risk Pathogenic —
RS2139405742 NKX2-1 Health Risk Pathogenic —
RS2139406837 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS2139407171 NKX2-1 Health Risk Pathogenic —
RS2139407297 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS2139407395 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS2139407488 NKX2-1 Health Risk Likely pathogenic —
RS2139407646 NKX2-1 Health Risk Pathogenic Benign hereditary chorea, Benign hereditary chorea
RS2139407723 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS2139408021 NKX2-1 Health Risk Pathogenic Benign hereditary chorea, Benign hereditary chorea
RS2139408039 NKX2-1 Health Risk Pathogenic —
RS2139408171 NKX2-1 Health Risk Pathogenic —
RS2139408360 NKX2-1 Health Risk Pathogenic/Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS2139408863 NALCN Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2139411281 NKX2-1 Health Risk Pathogenic —
RS2139411590 NKX2-1 Health Risk Pathogenic —
RS2139411763 NKX2-1 Health Risk Pathogenic —
RS2139411832 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS2139411895 NKX2-1 Health Risk Pathogenic —
RS2139411982 NKX2-1 Health Risk Pathogenic —
RS2139412296 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS2139413400 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS2139418772 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2139419099 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2139419505 CHAMP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 40
RS2139419654 CHAMP1 Health Risk Likely pathogenic —
RS2139419839 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2139419874 CHAMP1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2139420056 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2139420368 CHAMP1 Health Risk Likely pathogenic —
RS2139420897 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2139421634 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2139421763 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2139422092 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2139422391 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2139425153 ATP11A Health Risk Pathogenic Hearing loss, autosomal dominant 84
RS2139426091 SOX5 Health Risk Pathogenic —
RS2139426437 NALCN Health Risk Pathogenic —
RS2139436177 NUBPL Health Risk Pathogenic —
RS2139438975 NALCN Health Risk Likely pathogenic Hypotonia, infantile
RS2139447345 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139447449 CHD8 Health Risk Pathogenic —
RS2139447795 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139448045 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139452398 CHD8 Health Risk Pathogenic Macrocephaly, Macrocephaly
RS2139454253 COL4A2 Health Risk Conflicting classifications of pathogenicity COL4A2-related disorder, COL4A2-related disorder
RS2139460629 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS2139460816 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139462537 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139465605 NALCN Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2139467241 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139467378 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139469836 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139470170 CHD8 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2139470242 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139471533 NALCN Health Risk Conflicting classifications of pathogenicity See cases, Congenital contractures of the limbs and face
RS2139471715 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2139478436 NALCN Health Risk Likely pathogenic —
RS2139478439 CHD8 Health Risk Likely pathogenic —
RS2139478468 CHD8 Health Risk Likely pathogenic —
RS2139478486 CHD8 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2139480757 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2139481823 CHD8 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2139484699 CHD8 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2139484859 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139486055 SPTB Health Risk Pathogenic —
RS2139488882 SPTB Health Risk Conflicting classifications of pathogenicity —
RS2139493765 COL4A2 Health Risk Pathogenic —
RS2139495087 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS2139499311 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2139499999 CHD8 Health Risk Likely pathogenic CHD8-associated Neurodevelopmental syndrome, CHD8-associated Neurodevelopmental syndrome
RS2139502154 SPTB Health Risk Pathogenic —
RS2139503242 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2139504105 SPTB Health Risk Likely pathogenic —
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