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
RS2542716203 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542718326 DICER1 Health Risk Pathogenic —
RS2542718911 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542719039 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542719254 DICER1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS2542721174 DICER1 Health Risk Likely pathogenic Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS2542723228 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542723522 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS2542723633 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542723680 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS2542723735 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542723848 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS2542724105 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542737140 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542737278 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542737808 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542737883 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542738169 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542739288 SPRED1 Health Risk Likely pathogenic SPRED1-related disorder, SPRED1-related disorder
RS2542739501 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542739685 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542742348 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542742376 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS2542742417 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542742440 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542742614 SPRED1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2542743104 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS2542743179 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542743206 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS2542743264 SPRED1 Health Risk Likely pathogenic —
RS2542743623 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542743630 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542743797 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542743815 SPRED1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2542743874 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542743989 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542744037 SPRED1 Health Risk Pathogenic Cardiovascular phenotype, Legius syndrome
RS2542744046 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542744343 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542744385 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2542746463 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS2542747913 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542748548 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS2542748614 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542750103 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542750613 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542751349 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
RS2542752176 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
RS2542752936 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542753101 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2542753846 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542755054 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2542755543 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS2542755667 DICER1 Health Risk Pathogenic —
RS2542756101 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542756107 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2542756207 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2542756480 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS2542756668 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542759702 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542760096 IVD Health Risk Pathogenic —
RS2542760189 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542772141 DICER1 Health Risk Likely pathogenic Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS2542772237 DICER1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542773787 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542774587 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542776151 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542782727 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542783643 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542783787 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS2542786100 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Joubert syndrome 23
RS2542787143 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2542787952 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS2542799402 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS2542799465 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542799887 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS2542804643 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS2542806797 TPM1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2542810561 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542810858 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542810934 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542811244 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542813615 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS2542813635 CHRNA3 Health Risk Pathogenic Urinary bladder, atony of
RS2542813636 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542814247 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS2542819525 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2542826482 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542826556 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542826580 NPRL3 Health Risk Pathogenic —
RS2542826606 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS2542829152 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS2542830280 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542830314 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542832016 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542832163 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS2542832421 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2542832520 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542832684 GRIN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2542834555 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
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