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
RS2543059779 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543059971 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543060389 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543061332 SIN3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543061756 TUBGCP4 Health Risk Pathogenic —
RS2543061981 SIN3A Health Risk Likely pathogenic SIN3A-related disorder, SIN3A-related disorder
RS2543062387 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543062487 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543064634 DICER1 Health Risk Likely pathogenic Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Hereditary cancer-predisposing syndrome
RS2543065306 WDR72 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS2543067973 TUBGCP4 Health Risk Pathogenic —
RS2543069732 DMXL2 Health Risk Pathogenic —
RS2543070545 WDR72 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2543072613 TUBGCP4 Health Risk Pathogenic —
RS2543075783 SIN3A Health Risk Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS2543076155 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS2543076887 SIN3A Health Risk Likely pathogenic SIN3A-related intellectual disability syndrome, SIN3A-related intellectual disability syndrome
RS2543078313 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS2543082930 PIGB Health Risk Pathogenic —
RS2543084151 TUBGCP4 Health Risk Likely pathogenic —
RS2543089023 PIGB Health Risk Likely pathogenic —
RS2543093050 ATP8A2 Health Risk Pathogenic —
RS2543107879 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2543110485 SYNM Health Risk Conflicting classifications of pathogenicity SYNM-related disorder, SYNM-related disorder
RS2543112047 TUBGCP4 Health Risk Pathogenic —
RS2543114978 SYNM Health Risk Conflicting classifications of pathogenicity SYNM-related disorder, SYNM-related disorder
RS2543115957 UNC45A Health Risk Likely pathogenic Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS2543117482 SYNM Health Risk Conflicting classifications of pathogenicity SYNM-related disorder, SYNM-related disorder
RS2543139833 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2543140344 GRIN2A Health Risk Likely pathogenic —
RS2543140979 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2543141007 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2543143325 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2543144045 PIGB Health Risk Pathogenic —
RS2543144178 PIGB Health Risk Pathogenic —
RS2543152118 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2543152585 KIAA0586 Health Risk Pathogenic KIAA0586-related disorder, KIAA0586-related disorder
RS2543155958 UNC45A Health Risk Pathogenic Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS2543159855 TRPM1 Health Risk Pathogenic —
RS2543159863 TRPM1 Health Risk Pathogenic —
RS2543161072 ERCC4 Health Risk Pathogenic Cockayne syndrome, Xeroderma pigmentosum
RS2543161364 ERCC4 Health Risk Pathogenic Cockayne syndrome, Xeroderma pigmentosum
RS2543163481 TRPM1 Health Risk Pathogenic —
RS2543164636 MADD Health Risk Likely pathogenic Deeah syndrome, Deeah syndrome
RS2543165272 KNL1 Health Risk Likely pathogenic Microcephaly 4, primary
RS2543169545 ERCC4 Health Risk Likely pathogenic Xeroderma pigmentosum, group F
RS2543174139 ERCC4 Health Risk Pathogenic Fanconi anemia complementation group Q, Xeroderma pigmentosum
RS2543177794 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543178404 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543178455 DICER1 Health Risk Likely pathogenic Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS2543179169 DICER1 Health Risk Pathogenic —
RS2543179894 ERCC4 Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS2543179941 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543180159 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543180252 ERCC4 Health Risk Pathogenic —
RS2543180436 DICER1 Health Risk Likely pathogenic Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS2543182907 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS2543184108 ERCC4 Health Risk Likely pathogenic —
RS2543186334 UNC45A Health Risk Pathogenic Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS2543187534 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543187841 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543188305 DICER1 Health Risk Likely pathogenic Pleuropulmonary blastoma, Pleuropulmonary blastoma
RS2543227368 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543228849 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543228908 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2543230737 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543230821 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543252133 NR2E3 Health Risk Pathogenic —
RS2543252248 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543252284 NR2E3 Health Risk Pathogenic —
RS2543252304 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543253078 NR2E3 Health Risk Pathogenic —
RS2543253145 NR2E3 Health Risk Pathogenic —
RS2543253237 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543253260 NR2E3 Health Risk Likely pathogenic NR2E3-related disorder, NR2E3-related disorder
RS2543253289 NR2E3 Health Risk Pathogenic —
RS2543253358 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543253366 NR2E3 Health Risk Pathogenic —
RS2543253382 NR2E3 Health Risk Pathogenic —
RS2543253698 NR2E3 Health Risk Likely pathogenic —
RS2543253786 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543253848 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543254013 NR2E3 Health Risk Likely pathogenic —
RS2543254025 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543254082 NR2E3 Health Risk Pathogenic —
RS2543254294 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543254412 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543254453 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543254500 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS2543254818 NR2E3 Health Risk Pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543254872 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543256115 NR2E3 Health Risk Pathogenic —
RS2543256122 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543256174 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543256250 NR2E3 Health Risk Pathogenic —
RS2543256322 NR2E3 Health Risk Pathogenic —
RS2543256622 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543257167 NR2E3 Health Risk Pathogenic —
RS2543257393 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS2543260820 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
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