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
RS1555449314 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555449461 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1555449603 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555449604 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555449607 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555449617 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555449635 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1555449642 PKD1 Health Risk Pathogenic/Likely pathogenic —
RS1555449780 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555449795 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555449810 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555449966 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1555450109 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555450424 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1555450475 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555450487 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1555450672 PKD1 Health Risk Pathogenic —
RS1555450681 GNPTG Health Risk Pathogenic/Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1555450716 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1555450744 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1555450825 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555450920 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555450968 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555451093 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1555451101 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS1555451143 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555451152 SPG11 Health Risk Likely pathogenic —
RS1555451163 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555451280 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1555451368 PKD1 Health Risk Pathogenic —
RS1555451417 SPG11 Health Risk Likely pathogenic —
RS1555451430 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1555451465 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1555451491 SPG11 Health Risk Pathogenic —
RS1555451521 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS1555451608 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1555451643 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1555451684 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1555451866 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1555451874 GNPTG Health Risk Pathogenic/Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1555451983 SPG11 Health Risk Pathogenic —
RS1555452047 PKD1 Health Risk Pathogenic —
RS1555452081 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1555452127 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1555452247 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1555452400 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555452453 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1555452461 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1555452510 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1555452572 SLC24A5 Health Risk Pathogenic Oculocutaneous albinism type 6, Oculocutaneous albinism type 6
RS1555452574 SLC24A5 Health Risk Pathogenic Oculocutaneous albinism type 6, Oculocutaneous albinism type 6
RS1555452607 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1555452653 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1555452738 PKD1 Health Risk Pathogenic —
RS1555452849 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1555452876 PKD1 Health Risk Conflicting classifications of pathogenicity Elevated circulating creatine kinase concentration, Polycystic kidney disease
RS1555452983 POLG Health Risk Likely pathogenic POLG-related disorder, POLG-related disorder
RS1555453090 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1555453207 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555453238 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555453244 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555453360 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555453372 PKD1 Health Risk Pathogenic —
RS1555453395 PKD1 Health Risk Pathogenic Inborn genetic diseases, Polycystic kidney disease
RS1555453538 POLG Health Risk Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS1555453664 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1555453695 ACAN Health Risk Pathogenic Short stature and advanced bone age, with early-onset osteoarthritis
RS1555453708 ACAN Health Risk Pathogenic Short stature and advanced bone age, Short stature and advanced bone age
RS1555453727 SPG11 Health Risk Likely pathogenic —
RS1555453824 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1555453872 PKD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS1555453950 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS1555454075 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555454145 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1555454318 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1555454339 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS1555454353 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555454373 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555454411 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Renal cyst
RS1555454460 PKD1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS1555454467 PKD1 Health Risk Pathogenic —
RS1555454488 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555454508 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555454512 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555454560 ACAN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555454566 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS1555454604 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555454606 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555454620 PKD1 Health Risk Pathogenic —
RS1555454630 ACAN Health Risk Pathogenic Short stature and advanced bone age, with early-onset osteoarthritis
RS1555454739 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555454847 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic kidney disease
RS1555454886 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555454915 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555455057 ACAN Health Risk Pathogenic Short stature and advanced bone age, Short stature and advanced bone age
RS1555455109 PCCA Health Risk Likely pathogenic —
RS1555455127 ACAN Health Risk Pathogenic Short stature and advanced bone age, Short stature and advanced bone age
RS1555455246 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555455266 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1555455279 PKD1 Health Risk Likely pathogenic —
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