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
RS2543562994 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543563099 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543563198 AMFR Health Risk Pathogenic Spastic paraplegia 89, autosomal recessive
RS2543563213 TP53 Health Risk Likely pathogenic Adrenocortical carcinoma, hereditary
RS2543563410 SLC12A3 Health Risk Pathogenic —
RS2543563455 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543563511 SLC12A3 Health Risk Likely pathogenic —
RS2543564366 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543564402 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543564513 CARMIL2 Health Risk Pathogenic —
RS2543564529 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543564954 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Diffuse glioma
RS2543565508 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543565988 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543566349 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543566429 COQ9 Health Risk Pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS2543568206 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543573727 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543573812 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543573817 COQ9 Health Risk Pathogenic —
RS2543573873 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543574319 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543579525 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543580005 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543580299 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543580650 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543581136 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543581187 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543581245 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543581992 TP53 Health Risk Pathogenic Adrenal cortex carcinoma, Li-Fraumeni syndrome
RS2543582175 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS2543582500 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543582769 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543582874 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543582898 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543583855 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543584033 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS2543584353 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Adrenocortical carcinoma
RS2543584461 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543584650 SLC12A3 Health Risk Likely pathogenic —
RS2543584659 SLC12A3 Health Risk Pathogenic —
RS2543584665 SLC12A3 Health Risk Pathogenic —
RS2543584845 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543584889 SLC12A3 Health Risk Pathogenic —
RS2543584969 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543585691 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543586366 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543587338 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543587521 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543587881 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543588023 TP53 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2543588121 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543588154 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543589027 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543589246 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543589392 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543589630 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543592586 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543592806 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543593848 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543593922 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543594034 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543594251 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543595086 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543596479 TP53 Health Risk Pathogenic Prostate cancer, hereditary
RS2543596753 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543597805 TP53 Health Risk Pathogenic Prostate cancer, hereditary
RS2543597902 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543598421 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543598912 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543598991 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543599196 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543599398 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543600141 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543600379 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543601374 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543601628 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543601904 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543603679 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543603895 TP53 Health Risk Likely pathogenic —
RS2543603986 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543604025 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543604283 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543604402 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543604429 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543605398 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543606240 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606313 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606372 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606405 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606575 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606652 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606824 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606903 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543607383 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543607427 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543607458 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543607537 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543607986 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543608078 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
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