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
RS2143247486 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143247518 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143247529 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143250007 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143251066 SOX9 Health Risk Likely pathogenic SOX9-related disorder, SOX9-related disorder
RS2143251369 SOX9 Health Risk Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143251627 SOX9 Health Risk Pathogenic CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
RS2143251700 WDR45B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2143254357 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS2143254539 SOX9 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2143255167 SMCHD1 Health Risk Pathogenic —
RS2143255337 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2143257416 SOX9 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2143260759 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143261385 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143268856 SPOP Health Risk Likely pathogenic Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
RS2143269972 SPOP Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly and dysmorphic facies, Neurodevelopmental disorder with microcephaly and dysmorphic facies
RS2143272046 GNAO1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 17
RS2143272157 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143272162 GNAO1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 17
RS2143272172 GNAO1 Health Risk Likely pathogenic Neurodevelopmental disorder with involuntary movements, Neurodevelopmental disorder with involuntary movements
RS2143272260 GNAO1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2143272293 SPOP Health Risk Likely pathogenic —
RS2143273650 SPOP Health Risk Pathogenic/Likely pathogenic SPOP-related neurodevelopmental condition, SPOP-related neurodevelopmental condition
RS2143275431 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143275771 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143288193 MED13 Health Risk Likely pathogenic —
RS2143288270 MED13 Health Risk Pathogenic —
RS2143288542 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143288626 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143288874 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143289454 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143289473 PRKAR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney complex
RS2143293708 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143294238 PRKAR1A Health Risk Pathogenic —
RS2143295744 SPOP Health Risk Likely pathogenic SPOP-related disorder, Squamous cell carcinoma of the head and neck
RS2143300665 GATA6 Health Risk Pathogenic Atrioventricular septal defect 5, Atrioventricular septal defect 5
RS2143300954 GATA6 Health Risk Pathogenic Atrioventricular septal defect 5, Atrioventricular septal defect 5
RS2143307557 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143308216 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143312682 KIF1C Health Risk Pathogenic Spastic ataxia 2, Spastic ataxia 2
RS2143313439 KIF1C Health Risk Pathogenic Spastic ataxia 2, Spastic ataxia 2
RS2143317762 KIF1C Health Risk Pathogenic Spastic ataxia 2, Spastic ataxia 2
RS2143317920 KIF1C Health Risk Pathogenic Spastic ataxia 2, Spastic ataxia 2
RS2143321644 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS2143321666 PRKAR1A Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2143322263 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143322920 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143323595 KIF1C Health Risk Pathogenic Spastic ataxia 2, Spastic ataxia 2
RS2143325096 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2143325486 GRN Health Risk Pathogenic —
RS2143326580 GRN Health Risk Likely pathogenic —
RS2143331597 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143331971 FANCA Health Risk Likely pathogenic —
RS2143333169 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143335414 COG8 Health Risk Pathogenic COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS2143335460 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2143336220 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143336354 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143336461 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143336491 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143337085 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Melanoma
RS2143337849 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2143340252 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143340416 GRN Health Risk Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS2143342203 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2143344327 GRN Health Risk Pathogenic —
RS2143344360 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS2143345233 COG8 Health Risk Pathogenic —
RS2143347736 GRN Health Risk Pathogenic —
RS2143348249 GRN Health Risk Pathogenic —
RS2143349147 GRN Health Risk Conflicting classifications of pathogenicity —
RS2143350378 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143351188 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143351554 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143351760 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143366415 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2143366568 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143367390 SMCHD1 Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2143367693 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143371167 P4HB Health Risk Likely pathogenic Cole-Carpenter syndrome 1, Cole-Carpenter syndrome 1
RS2143382149 KIF1C Health Risk Pathogenic Abnormal central motor function, Abnormal central motor function
RS2143382661 PRKAR1A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2143383024 RNF43 Health Risk Likely pathogenic Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS2143383396 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143383985 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2143386698 MED13 Health Risk Pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2143387678 MED13 Health Risk Likely pathogenic —
RS2143390883 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS2143391287 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS2143392408 PRKAR1A Health Risk Likely pathogenic Carney complex, type 1
RS2143393148 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2143393518 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2143405085 ZFHX3 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2143409098 RNF43 Health Risk Likely pathogenic Sessile serrated polyposis cancer syndrome, Neoplasm
RS2143410400 MED13 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS2143416425 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS2143417444 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS2143417979 TBX21 Health Risk Pathogenic Immunodeficiency 88, Immunodeficiency 88
RS2143421042 PIEZO2 Health Risk Pathogenic Abnormality of the skeletal system, Abnormality of the skeletal system
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