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rs28929484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28929484(C;T)
Make rs28929484(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47475180
GeneMSH2
is asnp
is mentioned by
dbSNPrs28929484
ebirs28929484
HLIrs28929484
Exacrs28929484
Varsomers28929484
Maprs28929484
PheGenIrs28929484
hapmaprs28929484
1000 genomesrs28929484
hgdprs28929484
ensemblrs28929484
gopubmedrs28929484
geneviewrs28929484
scholarrs28929484
googlers28929484
pharmgkbrs28929484
gwascentralrs28929484
openSNPrs28929484
23andMers28929484
23andMe allrs28929484
SNP Nexus

SNPshotrs28929484
SNPdbers28929484
MSV3drs28929484
GWAS Ctlgrs28929484
Merged fromRs121434320
Max Magnitude0
ClinVar
Risk rs28929484(T;T)
Alt rs28929484(T;T)
Reference rs28929484(C;C)
Significance Pathogenic
Disease Lynch syndrome I Lynch syndrome not provided
Variation info
Gene MSH2
CLNDBN Lynch syndrome I Lynch syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47702319C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000001826.2, RCV000030246.3, RCV000202104.1,


[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.