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
RS2089222709 VPS16 Health Risk Pathogenic —
RS2089231699 ARSL Health Risk Pathogenic Chondrodysplasia punctata, brachytelephalangic
RS2089253964 VPS16 Health Risk Likely pathogenic VPS16-related disorder, Dystonia 30
RS2089256835 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089261042 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089261730 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2089270984 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089272680 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089276233 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2089276880 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089298923 FCHO1 Health Risk Pathogenic Severe congenital neutropenia, Immunodeficiency 76
RS2089303696 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089304297 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089304408 IDS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mucopolysaccharidosis
RS2089304532 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089305017 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089305109 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089305217 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089305275 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089305403 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2089305507 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089306333 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089306467 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089306573 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089307675 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089307879 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089307950 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089308131 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089308167 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089308367 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089318466 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder
RS2089323124 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089324047 SLC9A6 Health Risk Likely pathogenic —
RS2089331902 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089341188 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089341718 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089342939 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089342988 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089343063 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089343220 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089376607 GNAS Health Risk Likely pathogenic —
RS2089378420 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089378583 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089380075 GNAS Health Risk Pathogenic/Likely pathogenic —
RS2089380268 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089384365 GNAS Health Risk Pathogenic 8 conditions, GNAS-related disorder
RS2089386059 GNAS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2089393181 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B
RS2089421033 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS2089421415 ABHD12 Health Risk Pathogenic —
RS2089433234 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2089436037 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2089436271 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089436387 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089436689 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089436936 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089436972 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089437147 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089437359 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089438281 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089438403 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089445867 DEPDC5 Health Risk Conflicting classifications of pathogenicity Focal epilepsy, Familial focal epilepsy with variable foci
RS2089450305 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089450471 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089450754 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2089450982 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089451270 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089451478 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089451657 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089451912 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089452549 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2089452802 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089468193 MARS2 Health Risk Conflicting classifications of pathogenicity —
RS2089476206 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089488144 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2089492486 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2089494486 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2089495673 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089496667 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089496744 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089497268 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089497300 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089497431 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089497718 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089497858 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2089498194 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2089503537 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089503778 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089504816 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089504895 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2089505317 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089505743 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089505773 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089514224 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2089522517 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2089522875 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2089536867 SLC9A6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2089590552 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2089593597 DNMT1 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Autosomal dominant cerebellar ataxia
RS2089595149 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
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