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
RS2542392671 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542393826 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2542393839 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542393861 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2542394063 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542394345 CYP19A1 Health Risk Pathogenic —
RS2542394488 CYP19A1 Health Risk Pathogenic —
RS2542394502 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542394532 CYP19A1 Health Risk Pathogenic/Likely pathogenic Aromatase excess syndrome, Aromatase deficiency
RS2542394667 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542394791 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542395317 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542395324 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS2542395776 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542395816 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542396639 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542396806 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542397156 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542397293 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental delay with or without epilepsy, Developmental and epileptic encephalopathy
RS2542397448 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2542397575 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542398175 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542398436 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542398873 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2542399042 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542399227 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542399631 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542399697 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542399802 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542400056 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2542400785 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542401556 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542401788 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542401843 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542402017 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542402114 CYP19A1 Health Risk Pathogenic —
RS2542403356 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542403368 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542403567 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542404026 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542404037 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542404363 DICER1 Health Risk Likely pathogenic Pleuropulmonary blastoma, Pleuropulmonary blastoma
RS2542404462 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542404536 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542404539 CYP19A1 Health Risk Pathogenic —
RS2542404760 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542405102 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542405788 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542406552 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Euthyroid goiter
RS2542407479 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542407738 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542412260 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2542412522 CYP19A1 Health Risk Likely pathogenic —
RS2542412670 CYP19A1 Health Risk Pathogenic —
RS2542412966 CYP19A1 Health Risk Pathogenic —
RS2542415006 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542415204 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542415349 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542415445 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542415556 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542415633 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542415812 SACS Health Risk Likely pathogenic Papillary renal cell carcinoma type 1, Charlevoix-Saguenay spastic ataxia
RS2542415834 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542416178 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2542419680 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2542422187 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS2542422524 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2542422836 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS2542423042 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2542423178 CYP19A1 Health Risk Pathogenic —
RS2542423740 CYP19A1 Health Risk Pathogenic Aromatase deficiency, Aromatase deficiency
RS2542426988 ATP8A2 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS2542431260 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS2542431791 TPM1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2542433072 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS2542438998 CYP19A1 Health Risk Pathogenic —
RS2542439230 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542440284 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542440450 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542440600 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542441823 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542441975 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542442157 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542442356 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542442602 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542442732 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542442890 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542443619 ATP8A2 Health Risk Likely pathogenic —
RS2542444831 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542446879 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2542450222 TPI1 Health Risk Likely pathogenic —
RS2542450530 TPI1 Health Risk Pathogenic —
RS2542458038 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542458244 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2542465662 CYP19A1 Health Risk Likely pathogenic —
RS2542465709 CYP19A1 Health Risk Pathogenic —
RS2542466150 CYP19A1 Health Risk Pathogenic —
RS2542466633 CYP19A1 Health Risk Likely pathogenic Aromatase excess syndrome, Aromatase deficiency
RS2542473698 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542473988 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
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