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
RS2143422217 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2143422286 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143422990 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143424348 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143424506 SMCHD1 Health Risk Pathogenic —
RS2143424712 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143426682 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2143427792 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143428858 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143429292 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143429307 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143430597 LOXHD1 Health Risk Pathogenic —
RS2143432038 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143432066 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143433058 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143435739 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143436505 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143436744 SALL1 Health Risk Likely pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS2143437310 SLC52A1 Health Risk Pathogenic —
RS2143437407 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143438540 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143438994 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143439241 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143439415 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143439832 ZFHX3 Health Risk Likely pathogenic —
RS2143440696 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143440798 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143442272 FAM20A Health Risk Pathogenic —
RS2143442678 SALL1 Health Risk Likely pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS2143446012 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS2143446286 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS2143447308 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS2143447323 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143447351 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS2143447451 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS2143447856 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143448019 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS2143448046 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS2143448771 SALL1 Health Risk Pathogenic Townes syndrome, Hearing impairment
RS2143448859 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS2143449624 SALL1 Health Risk Pathogenic/Likely pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS2143449682 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS2143450145 SALL1 Health Risk Pathogenic/Likely pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS2143450333 SALL1 Health Risk Pathogenic —
RS2143450843 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143451028 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143451854 SALL1 Health Risk Pathogenic —
RS2143452148 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143452404 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143452445 SALL1 Health Risk Likely pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS2143456307 TUBG1 Health Risk Likely pathogenic —
RS2143456924 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2143459144 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143459289 MED13 Health Risk Pathogenic —
RS2143459811 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143460477 MED13 Health Risk Likely pathogenic —
RS2143461728 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143465205 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143465421 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143466709 SETD1A Health Risk Pathogenic —
RS2143471373 MED13 Health Risk Pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2143475577 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143477277 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143478260 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143480810 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143481657 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143481840 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143481938 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143484108 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143484371 SMCHD1 Health Risk Pathogenic —
RS2143485154 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143485431 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143485911 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143487816 BCAS3 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2143489377 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143489430 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143489510 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143491361 SETD1A Health Risk Pathogenic —
RS2143491610 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143491920 SETD1A Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2143492189 SRSF1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual disability
RS2143492454 SETD1A Health Risk Pathogenic —
RS2143495812 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS2143496821 CLTC Health Risk Pathogenic —
RS2143496899 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2143506473 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS2143507207 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2143507418 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia 1
RS2143509708 SETD1A Health Risk Likely pathogenic Epilepsy, early-onset
RS2143514019 SETD1A Health Risk Likely pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2143524373 MYO9A Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS2143525603 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143525701 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143525756 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143526006 FAM20A Health Risk Likely pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS2143529644 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143529729 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143529990 FANCA Health Risk Pathogenic Abnormality of blood and blood-forming tissues, Abnormality of blood and blood-forming tissues
RS2143530610 SMCHD1 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143530829 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
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