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
RS2509402279 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509402361 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509402390 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2509402624 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2509402628 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509403348 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS2509403404 MKS1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509403513 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509403624 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS2509404204 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS2509404703 PRKAR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509407190 PRKAR1A Health Risk Likely pathogenic Carney complex, type 1
RS2509407247 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509407622 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509407684 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS2509407715 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509407984 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2509409036 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509409059 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509409153 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2509410958 AXIN2 Health Risk Likely pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509411772 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS2509412566 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509413013 PRKAR1A Health Risk Pathogenic/Likely pathogenic Carney complex, type 1
RS2509413024 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509413057 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS2509413100 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509414042 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2509414313 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509414713 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509414761 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509414978 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509416195 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509416268 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509416449 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS2509416584 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509416620 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509416760 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS2509416773 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2509416820 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS2509417045 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2509417609 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2509418496 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2509418693 PRKAR1A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509425417 COX11 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 23
RS2509426093 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS2509426428 MKS1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509428356 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS2509428405 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS2509430749 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509431075 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509431113 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509431594 ARSG Health Risk Pathogenic —
RS2509437298 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509437319 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509437411 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509437916 PRKAR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509438133 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509441981 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS2509442096 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS2509443639 PRKAR1A Health Risk Pathogenic/Likely pathogenic Carney complex, type 1
RS2509443692 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509443931 PRKAR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509444700 MKS1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509445539 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS2509446205 PRKAR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509446428 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS2509447942 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509448738 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS2509455112 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509455117 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509457459 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS2509457683 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509457712 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509465601 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS2509465988 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2509466085 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2509466317 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2509469673 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2509512772 HOXB13 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2509515998 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509518787 TBX2 Health Risk Likely pathogenic Vertebral anomalies and variable endocrine and T-cell dysfunction, Vertebral anomalies and variable endocrine and T-cell dysfunction
RS2509545349 POLG2 Health Risk Pathogenic —
RS2509551898 POLG2 Health Risk Likely pathogenic —
RS2509554461 ARSG Health Risk Pathogenic —
RS2509555498 TBX4 Health Risk Pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS2509555531 ARSG Health Risk Pathogenic Usher syndrome, type 4
RS2509559937 POLG2 Health Risk Likely pathogenic —
RS2509560069 POLG2 Health Risk Pathogenic —
RS2509561885 POLG2 Health Risk Pathogenic —
RS2509565244 TBX4 Health Risk Pathogenic —
RS2509565286 TBX4 Health Risk Pathogenic —
RS2509566765 TBX4 Health Risk Pathogenic —
RS2509566796 TBX4 Health Risk Likely pathogenic TBX4-related disorder, TBX4-related disorder
RS2509567162 TBX4 Health Risk Pathogenic —
RS2509578117 FAM20A Health Risk Likely pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS2509578283 FAM20A Health Risk Likely pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS2509607298 TANC2 Health Risk Likely pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2509619909 ARSG Health Risk Pathogenic —
RS2509620338 ARSG Health Risk Pathogenic —
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