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
RS2542075835 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542089179 WDR72 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2542089584 MYO1E Health Risk Pathogenic —
RS2542089684 POLE Health Risk Pathogenic —
RS2542090484 POLE Health Risk Pathogenic —
RS2542091859 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2542091863 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2542092554 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2542093245 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542093257 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542093262 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542093276 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542093316 RB1 Health Risk Pathogenic Retinoblastoma, Neoplasm
RS2542093570 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542093585 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542093681 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542094345 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542094349 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542094356 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542094478 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542094495 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542094556 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542096421 POLE Health Risk Pathogenic —
RS2542096701 POLE Health Risk Pathogenic Colorectal cancer, susceptibility to
RS2542099867 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542099907 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542099953 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542099970 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542100048 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542100256 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542100268 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542100326 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542100363 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542100494 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2542101470 POLE Health Risk Pathogenic —
RS2542101554 POLE Health Risk Pathogenic —
RS2542101674 POLE Health Risk Pathogenic —
RS2542103069 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2542103135 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2542103356 POLE Health Risk Likely pathogenic —
RS2542103387 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2542104080 POLR3B Health Risk Likely pathogenic —
RS2542104965 POLE Health Risk Pathogenic —
RS2542109823 WDR72 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS2542110126 POLR3B Health Risk Likely pathogenic —
RS2542118910 POLR3B Health Risk Pathogenic —
RS2542127860 POLE Health Risk Pathogenic —
RS2542128153 POLE Health Risk Pathogenic —
RS2542133713 POLE Health Risk Pathogenic —
RS2542134020 POLE Health Risk Pathogenic —
RS2542134326 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542134730 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542134839 POLE Health Risk Pathogenic —
RS2542135635 POLE Health Risk Pathogenic —
RS2542136084 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542137178 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542138113 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542138331 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542138352 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542139339 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542139382 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Autosomal recessive spastic ataxia
RS2542139536 POLE Health Risk Pathogenic —
RS2542140157 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2542140941 POLE Health Risk Pathogenic —
RS2542141009 POLE Health Risk Pathogenic —
RS2542141517 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2542143632 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542145071 POLE Health Risk Pathogenic —
RS2542145750 POLE Health Risk Pathogenic —
RS2542145946 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542146046 POLE Health Risk Pathogenic —
RS2542146457 POLE Health Risk Pathogenic —
RS2542146685 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542147207 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2542147593 POLE Health Risk Pathogenic —
RS2542149542 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542150460 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542150696 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542151101 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542153725 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542153994 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542154639 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542155049 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2542155609 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542155892 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542155973 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542155979 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542155996 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542156044 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542156125 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542156233 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS2542156330 RB1 Health Risk Pathogenic Lung adenocarcinoma, Retinoblastoma
RS2542157770 POLE Health Risk Pathogenic —
RS2542157981 POLE Health Risk Pathogenic —
RS2542157997 POLE Health Risk Pathogenic Colorectal cancer, susceptibility to
RS2542158546 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2542158730 POLE Health Risk Pathogenic —
RS2542158927 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542159094 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2542159160 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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