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
RS2505880000 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505887113 CACNA1C Health Risk Likely pathogenic CACNA1C-related disorder, CACNA1C-related disorder
RS2505888715 CEP152 Health Risk Pathogenic Microcephaly 9, primary
RS2505891787 NIN Health Risk Likely pathogenic Seckel syndrome 7, Seckel syndrome 7
RS2505904065 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505905528 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS2505905536 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2505906188 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505907513 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505910497 TELO2 Health Risk Pathogenic —
RS2505910980 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2505910996 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505911590 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2505911861 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2505926819 TELO2 Health Risk Likely pathogenic —
RS2505926865 ANK2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505931024 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS2505931124 ANK2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2505931126 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS2505931142 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS2505933210 ANK2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2505933639 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS2505936870 PIGQ Health Risk Pathogenic PIGQ-related disorder, Epilepsy
RS2505951722 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2505951838 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2505951948 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2505959955 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2505965079 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2505966575 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2505968287 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2505968683 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2505968895 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505969779 IGF1R Health Risk Pathogenic —
RS2505969978 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2505970054 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2505970769 CIB1 Health Risk Pathogenic —
RS2505980836 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2505980883 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2505981458 IGF1R Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2505983529 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505983816 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2505983851 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS2505984516 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS2505984539 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2505987224 TELO2 Health Risk Pathogenic —
RS2505994536 ANK2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2506014488 IGF1R Health Risk Pathogenic —
RS2506023488 IGF1R Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2506034722 IGF1R Health Risk Pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS2506039306 GRIN2A Health Risk Pathogenic Seizure, Seizure
RS2506039338 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506058863 IGF1R Health Risk Pathogenic/Likely pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS2506059210 IGF1R Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2506064268 IFT140 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2506064389 OCA2 Health Risk Likely pathogenic —
RS2506064523 CDAN1 Health Risk Likely pathogenic —
RS2506064927 OCA2 Health Risk Likely pathogenic OCA2-related disorder, OCA2-related disorder
RS2506065436 OCA2 Health Risk Pathogenic OCA2-related disorder, OCA2-related disorder
RS2506065459 OCA2 Health Risk Pathogenic —
RS2506065990 OCA2 Health Risk Pathogenic —
RS2506067560 CDAN1 Health Risk Likely pathogenic Anemia, congenital dyserythropoietic
RS2506069523 IGF1R Health Risk Likely pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS2506072003 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2506072089 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2506077768 CDAN1 Health Risk Pathogenic —
RS2506082363 CDAN1 Health Risk Pathogenic —
RS2506085601 CDAN1 Health Risk Pathogenic —
RS2506088522 CDAN1 Health Risk Pathogenic —
RS2506091121 IGF1R Health Risk Likely pathogenic —
RS2506092231 CDAN1 Health Risk Likely pathogenic Anemia, congenital dyserythropoietic
RS2506094292 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2506094595 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506094829 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506094896 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506095528 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS2506101144 CDAN1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
RS2506102659 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2506103002 IFT140 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2506103419 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2506104244 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2506104379 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506104570 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506104627 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506104683 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506107051 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506107075 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506107168 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506107182 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506107250 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS2506107289 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506107370 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2506111320 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506111442 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506111451 GRIN2A Health Risk Likely pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS2506111725 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506111827 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506111835 GRIN2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2506112058 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2506113141 SPG21 Health Risk Conflicting classifications of pathogenicity Mast syndrome, Mast syndrome
RS2506113603 IFT140 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
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