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rs121434320

From SNPedia

Merged intors28929484
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434320(C;T)
Make rs121434320(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47475180
GeneMSH2
is asnp
is mentioned by
dbSNPrs121434320
ebirs121434320
HLIrs121434320
Exacrs121434320
Varsomers121434320
Maprs121434320
PheGenIrs121434320
hapmaprs121434320
1000 genomesrs121434320
hgdprs121434320
ensemblrs121434320
gopubmedrs121434320
geneviewrs121434320
scholarrs121434320
googlers121434320
pharmgkbrs121434320
gwascentralrs121434320
openSNPrs121434320
23andMers121434320
23andMe allrs121434320
SNP Nexus

SNPshotrs121434320
SNPdbers121434320
MSV3drs121434320
GWAS Ctlgrs121434320
StatusMerged into rs28929484
Max Magnitude0
OMIM609309
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434320(T;T)
Alt rs121434320(T;T)
Reference rs121434320(C;C)
Significance Pathogenic
Disease Lynch syndrome I
Variation info
Gene MSH2
CLNDBN Lynch syndrome I
Reversed 0
HGVS NC_000002.11:g.47702319C>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000021982.1,


[PMID 8062247] hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.


[PMID 8261515] Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.


[PMID 9630599] Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae.


[PMID 9718327OA-icon.png] Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.


[PMID 14518068] Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.


[PMID 16395668] Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.