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
RS2127382430 ALDH5A1 Health Risk Pathogenic —
RS2127382929 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127385829 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127385854 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127385894 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127387279 ALDH5A1 Health Risk Pathogenic/Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127387935 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127387936 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127389582 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127392445 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127392454 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS2127392839 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127392891 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127393407 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127396985 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2127397072 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2127397160 SH3TC2 Health Risk Likely pathogenic —
RS2127397555 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127397557 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127397561 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127398558 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127398588 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127399518 PSMB9 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 6, proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID)
RS2127399983 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
RS2127400622 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2127400649 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127401413 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2127402263 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2127402305 SH3TC2 Health Risk Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS2127403412 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS2127404974 FOXP4 Health Risk Pathogenic 8 conditions, 8 conditions
RS2127412070 MMUT Health Risk Pathogenic —
RS2127412094 MMUT Health Risk Pathogenic —
RS2127413347 MMUT Health Risk Pathogenic —
RS2127414718 MMUT Health Risk Pathogenic —
RS2127415155 MMUT Health Risk Likely pathogenic —
RS2127415956 MMUT Health Risk Pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS2127416017 MMUT Health Risk Pathogenic —
RS2127416800 MMUT Health Risk Pathogenic —
RS2127416819 MMUT Health Risk Pathogenic —
RS2127416851 MMUT Health Risk Pathogenic —
RS2127417136 MMUT Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2127417197 MMUT Health Risk Pathogenic —
RS2127417899 MMUT Health Risk Pathogenic —
RS2127417916 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2127417955 MMUT Health Risk Pathogenic —
RS2127418623 MMUT Health Risk Pathogenic —
RS2127418704 MMUT Health Risk Likely pathogenic —
RS2127418705 MMUT Health Risk Pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS2127419415 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2127419920 MMUT Health Risk Pathogenic METHYLMALONIC ACIDURIA, mut(-) TYPE
RS2127420039 MMUT Health Risk Pathogenic —
RS2127420062 MMUT Health Risk Pathogenic —
RS2127420084 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2127420439 MMUT Health Risk Pathogenic —
RS2127435669 DDX41 Health Risk Likely pathogenic —
RS2127435833 DDX41 Health Risk Conflicting classifications of pathogenicity Myelodysplastic syndrome, Inborn genetic diseases
RS2127436133 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2127436241 DDX41 Health Risk Pathogenic —
RS2127436444 DDX41 Health Risk Pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS2127436963 DDX41 Health Risk Pathogenic —
RS2127437490 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS2127444957 GCNT2 Health Risk Pathogenic Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
RS2127446222 TAF8 Health Risk Pathogenic Neurodevelopmental disorder with severe motor impairment, absent language
RS2127450867 PHACTR1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 70
RS2127459499 TAF8 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2127463403 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2127463432 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2127463933 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2127464524 TAF8 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2127511689 B4GALT7 Health Risk Pathogenic Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS2127515878 JARID2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2127542636 MAK Health Risk Pathogenic —
RS2127544065 COL9A1 Health Risk Pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS2127544675 ZFP57 Health Risk Likely pathogenic Diabetes mellitus, transient neonatal
RS2127547308 ZFP57 Health Risk Pathogenic —
RS2127547350 ZFP57 Health Risk Pathogenic Diabetes mellitus, transient neonatal
RS2127548040 MAK Health Risk Likely pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS2127551949 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2127556087 MAK Health Risk Likely pathogenic —
RS2127556217 MAK Health Risk Pathogenic —
RS2127557714 COL9A1 Health Risk Pathogenic COL9A1-related disorder, COL9A1-related disorder
RS2127564759 MAK Health Risk Pathogenic —
RS2127565932 COL9A1 Health Risk Pathogenic —
RS2127566670 COL9A1 Health Risk Pathogenic —
RS2127576361 COL9A1 Health Risk Pathogenic —
RS2127576931 COL9A1 Health Risk Pathogenic —
RS2127583475 DHX16 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2127584790 EXOC2 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
RS2127587326 FAT2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 45, Spinocerebellar ataxia 45
RS2127590606 MAK Health Risk Pathogenic —
RS2127605169 COL9A1 Health Risk Pathogenic —
RS2127609482 COL9A1 Health Risk Pathogenic —
RS2127617300 TDP2 Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive 23
RS2127621751 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2127622153 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2127636119 HNRNPH1 Health Risk Likely pathogenic —
RS2127637299 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127637373 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2127642660 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
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