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rs34612342

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 2 increased risk for certain cancers?
(G;G) 2 increased risk for certain cancers?
ReferenceGRCh38 38.1/142
Chromosome1
Position45332803
GeneMUTYH
is asnp
is mentioned by
dbSNPrs34612342
ebirs34612342
HLIrs34612342
Exacrs34612342
Varsomers34612342
Maprs34612342
PheGenIrs34612342
hapmaprs34612342
1000 genomesrs34612342
hgdprs34612342
ensemblrs34612342
gopubmedrs34612342
geneviewrs34612342
scholarrs34612342
googlers34612342
pharmgkbrs34612342
gwascentralrs34612342
openSNPrs34612342
23andMers34612342
23andMe allrs34612342
SNP Nexus

SNPshotrs34612342
SNPdbers34612342
MSV3drs34612342
GWAS Ctlgrs34612342
Max Magnitude2
rs34612342, also known as Tyr179Cys, is one of the two most common pathogenic mutations in the MUTYH gene. The normal allele, encoding the tyrosine, is rs34612342(A), while rs34612342(G) is the risk allele. [Mutation nomenclature according to Genbank accession number NM_001128425.1 c.536A>G, p.Tyr179Cys; alternative numbering can lead to this SNP also being called Tyr151Cys, Tyr152Cys, Tyr165Cys, or Tyr176Cys.]

Germline bi-allelic mutations in the MUTYH gene increase the risk of developing multiple adenomatous polyps and colorectal cancer. [PMID 11818965]


[PMID 20571908] MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility: a case control study

OMIM604933
Desc
Variant0001
Relatedalso


ClinVar
Risk rs34612342(G;G)
Alt rs34612342(G;G)
Reference rs34612342(A;A)
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.45798475T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005612.8, RCV000005613.2, RCV000079502.3, RCV000115766.6, RCV000121607.1, RCV000144631.1,



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