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rs36053993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3.1 likely to be at somewhat increased risk for colorectal cancers
(A;G) 2.5 carrier of a risk allele associated with colorectal polyps and possibly cancers
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome1
Position45331556
GeneMUTYH
is asnp
is mentioned by
dbSNPrs36053993
ebirs36053993
HLIrs36053993
Exacrs36053993
Varsomers36053993
Maprs36053993
PheGenIrs36053993
hapmaprs36053993
1000 genomesrs36053993
hgdprs36053993
ensemblrs36053993
gopubmedrs36053993
geneviewrs36053993
scholarrs36053993
googlers36053993
pharmgkbrs36053993
gwascentralrs36053993
openSNPrs36053993
23andMers36053993
23andMe allrs36053993
SNP Nexus

SNPshotrs36053993
SNPdbers36053993
MSV3drs36053993
GWAS Ctlgrs36053993
GMAF0.003673
Max Magnitude3.1
rs36053993, also known as Gly396Asp, 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.)

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]

OMIM604933
Desc
Variant0002
Relatedalso


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
Variation info
Gene MUTYH
CLNDBN MYH-associated polyposis Endometrial carcinoma not provided Hereditary cancer-predisposing syndrome not specified Carcinoma of colon
Reversed 1
HGVS NC_000001.10:g.45797228C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005614.9, RCV000005615.3, RCV000079501.4, RCV000115748.7, RCV000121598.1, RCV000144637.1,



[PMID 21273643OA-icon.png] In vitro functional effects of XPC gene rare variants from bladder cancer patients.