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
RS2542835757 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2542840500 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related disorder, DICER1-related tumor predisposition
RS2542841424 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542841694 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542842484 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2542842847 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542842943 CDC42BPB Health Risk Likely pathogenic Chilton-Okur-Chung neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome
RS2542842989 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2542843255 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542844105 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2542844483 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
RS2542847763 CDC42BPB Health Risk Likely pathogenic Chilton-Okur-Chung neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome
RS2542847797 CDC42BPB Health Risk Likely pathogenic Chilton-Okur-Chung neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome
RS2542851457 DICER1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Pleuropulmonary blastoma
RS2542851946 NPRL3 Health Risk Pathogenic —
RS2542851975 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS2542851981 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542853572 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542854146 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542855939 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS2542856022 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542856290 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542856448 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542859349 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542859477 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2542859946 FANCC Health Risk Pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2542860738 RASGRP1 Health Risk Likely pathogenic —
RS2542861023 CDC42BPB Health Risk Likely pathogenic —
RS2542861359 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2542861401 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2542861731 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2542861944 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2542862627 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2542863248 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2542863696 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2542865468 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542865493 NPRL3 Health Risk Pathogenic —
RS2542865593 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542865771 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2542865904 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542867677 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542868197 RASGRP1 Health Risk Pathogenic —
RS2542869767 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2542871866 RASGRP1 Health Risk Likely pathogenic Immunodeficiency 64, Immunodeficiency 64
RS2542878863 RASGRP1 Health Risk Pathogenic —
RS2542882268 GLDN Health Risk Likely pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS2542883131 GLDN Health Risk Likely pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS2542890913 CDC42BPB Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2542892124 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS2542892142 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2542892241 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS2542894392 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2542895193 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542895259 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2542895509 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542895562 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542895898 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542897406 RASGRP1 Health Risk Pathogenic —
RS2542897679 RASGRP1 Health Risk Pathogenic —
RS2542897781 RASGRP1 Health Risk Pathogenic —
RS2542898051 UBR1 Health Risk Pathogenic —
RS2542901758 UBR1 Health Risk Likely pathogenic —
RS2542904941 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2542905627 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2542908777 UBR1 Health Risk Pathogenic —
RS2542908789 UBR1 Health Risk Pathogenic —
RS2542912815 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542913539 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS2542914494 UBR1 Health Risk Pathogenic —
RS2542918050 RASGRP1 Health Risk Likely pathogenic —
RS2542931807 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS2542931853 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2542931886 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2542931956 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2542932189 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2542932578 DICER1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542936690 UBR1 Health Risk Likely pathogenic —
RS2542940265 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2542940466 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2542940636 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2542941600 UBR1 Health Risk Likely pathogenic —
RS2542947219 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2542950527 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2542951728 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542951865 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542952666 DICER1 Health Risk Likely pathogenic Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS2542954553 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2542954655 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, BBS4-related disorder
RS2542959912 TRIP11 Health Risk Pathogenic See cases, See cases
RS2542961367 TUBGCP4 Health Risk Pathogenic —
RS2542967079 UBR1 Health Risk Pathogenic —
RS2542967186 UBR1 Health Risk Likely pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS2542969236 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS2542969256 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2542969418 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2542969441 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2542969762 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2542970874 UBR1 Health Risk Pathogenic —
RS2542973463 DMXL2 Health Risk Pathogenic —
RS2542973522 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
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