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
RS2542159239 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2542159296 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542159328 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542159338 POLE Health Risk Pathogenic —
RS2542159378 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542159382 POLE Health Risk Pathogenic —
RS2542159429 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542159446 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542159487 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542159538 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542160021 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542160376 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542161182 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542162094 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542163576 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542163614 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542163666 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542163684 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542163695 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542163706 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542163744 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS2542164586 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542164864 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2542165690 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542165708 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542165903 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2542166052 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542166069 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2542166691 FRMD4A Health Risk Likely pathogenic Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
RS2542167350 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542167820 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542167959 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS2542169047 SPTAN1 Health Risk Pathogenic/Likely pathogenic SPTAN1-related disorder, Early-infantile DEE
RS2542169843 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542169878 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542170533 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542171291 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542171368 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542171644 POLE Health Risk Pathogenic —
RS2542172263 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542172424 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542172605 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2542172909 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542173828 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542174278 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542174867 MYO1E Health Risk Pathogenic Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS2542174972 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2542175907 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542176914 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542177441 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542177515 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2542177573 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542178150 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542178338 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2542178368 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542178490 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542178621 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542178656 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542178688 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542178947 POLE Health Risk Pathogenic —
RS2542179809 POLE Health Risk Pathogenic —
RS2542181842 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542181919 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542182043 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542182117 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542182132 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542182142 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542182238 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542182281 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542182319 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542182360 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542182392 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542182475 RB1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542183064 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542183676 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542184972 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542185042 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542185063 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542185081 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542185122 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542185248 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542187872 POLE Health Risk Likely pathogenic —
RS2542188390 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2542188421 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542188520 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542188523 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542188550 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542188575 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542188601 POLE Health Risk Pathogenic —
RS2542188653 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542188688 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542188690 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2542188725 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542189673 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS2542189679 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542189694 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542189840 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542189911 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS2542189936 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2542189961 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
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