rs36053993
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | likely to be at somewhat increased risk for colorectal cancers |
| (A;G) | 3 | carrier of a risk allele associated with colorectal polyps and possibly cancers |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 45331556 |
| Gene | MUTYH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36053993 |
| dbSNP (classic) | rs36053993 |
| ClinGen | rs36053993 |
| ebi | rs36053993 |
| HLI | rs36053993 |
| Exac | rs36053993 |
| Gnomad | rs36053993 |
| Varsome | rs36053993 |
| LitVar | rs36053993 |
| Map | rs36053993 |
| PheGenI | rs36053993 |
| Biobank | rs36053993 |
| 1000 genomes | rs36053993 |
| hgdp | rs36053993 |
| ensembl | rs36053993 |
| geneview | rs36053993 |
| scholar | rs36053993 |
| rs36053993 | |
| pharmgkb | rs36053993 |
| gwascentral | rs36053993 |
| openSNP | rs36053993 |
| 23andMe | rs36053993 |
| SNPshot | rs36053993 |
| SNPdbe | rs36053993 |
| MSV3d | rs36053993 |
| GWAS Ctlg | rs36053993 |
| GMAF | 0.003673 |
| Max Magnitude | 5 |
rs36053993, also known as Gly396Asp or G196D, is one of the two most common pathogenic mutations in the MUTYH gene. The risk allele is rs36053993(A), as oriented in accordance with dbSNP. (Mutation nomenclature according to Genbank accession number NM_001128425.1 c.1187G>A, p.Gly396Asp; numbering differences can lead to alternative designations including Gly368Asp, Gly369Asp, Gly382Asp, or Gly393Asp.)
Both rs34612342 and rs36053993 are considered founder mutations that first arose in ancestors who lived between 5–8 thousand years and 6–9 thousand years B.C., respectively.[PMID 23361220
]
People with two copies of a single mutation in the MUTYH gene are at higher risk of developing multiple adenomatous polyps and colorectal cancer. [PMID 11818965]
| ClinVar | |
|---|---|
| Risk | Rs36053993(A;A) |
| Alt | Rs36053993(A;A) |
| Reference | Rs36053993(G;G) |
| Significance | Pathogenic |
| Disease | MYH-associated polyposis Endometrial carcinoma not provided Hereditary cancer-predisposing syndrome not specified Carcinoma of colon Neoplasm of stomach Small intestine carcinoid |
| Variation | info |
| Gene | MUTYH |
| CLNDBN | MYH-associated polyposis Endometrial carcinoma not provided Hereditary cancer-predisposing syndrome not specified Carcinoma of colon Neoplasm of stomach Small intestine carcinoid |
| Reversed | 1 |
| HGVS | NC_000001.10:g.45797228C>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000005614.10, RCV000005615.3, RCV000079501.5, RCV000115748.11, RCV000121598.1, RCV000144637.1, RCV000477907.1, RCV000493920.1, |
[PMID 21273643] In vitro functional effects of XPC gene rare variants from bladder cancer patients.
