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
RS2542189979 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542189991 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542190236 POLE Health Risk Likely pathogenic —
RS2542190500 POLE Health Risk Pathogenic —
RS2542190548 POLE Health Risk Pathogenic —
RS2542190614 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542190757 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542190999 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542191973 POLE Health Risk Likely pathogenic —
RS2542193600 RORA;RORA-AS1 Health Risk Likely pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2542193673 POLE Health Risk Likely pathogenic —
RS2542193751 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542193929 RORA Health Risk Likely pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS2542194050 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542194072 POLE Health Risk Pathogenic —
RS2542194366 POLE Health Risk Pathogenic —
RS2542194514 RB1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542194805 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542194817 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542194918 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2542194998 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542195126 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542195231 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542196459 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542196541 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542197082 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542197409 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542197503 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542198020 POLE Health Risk Pathogenic —
RS2542198426 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542198432 POLE Health Risk Pathogenic —
RS2542198715 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542198759 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542198970 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542199056 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542199088 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542199175 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542202437 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542202770 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542202847 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542202867 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542203051 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204075 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204134 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204202 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542204232 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204239 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204471 SACS Health Risk Likely pathogenic —
RS2542204506 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204515 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2542204520 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204523 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542204553 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204589 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204636 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542204736 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542204841 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542205075 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2542206390 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542206397 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542206398 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542206450 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542206509 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2542206514 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542206515 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542206537 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542206553 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542206559 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542206617 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542206679 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542206741 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2542206797 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542206843 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542206852 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542206886 RB1 Health Risk Pathogenic Hereditary retinoblastoma, Hereditary retinoblastoma
RS2542206907 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542206952 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542207009 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542207110 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542207780 SPTAN1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2542209490 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542209540 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542211771 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2542212566 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542218038 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542218401 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542218493 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2542218680 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542220435 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542220739 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542221596 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542221672 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542221687 POLE Health Risk Pathogenic —
RS2542221939 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542222360 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2542222448 POLE Health Risk Pathogenic —
RS2542223665 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542223691 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542225936 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542226453 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
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