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rs2303428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2303428(C;C)
Make rs2303428(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47476361
GeneMSH2
is asnp
is mentioned by
dbSNPrs2303428
ebirs2303428
HLIrs2303428
Exacrs2303428
Varsomers2303428
Maprs2303428
PheGenIrs2303428
hapmaprs2303428
1000 genomesrs2303428
hgdprs2303428
ensemblrs2303428
gopubmedrs2303428
geneviewrs2303428
scholarrs2303428
googlers2303428
pharmgkbrs2303428
gwascentralrs2303428
openSNPrs2303428
23andMers2303428
23andMe allrs2303428
SNP Nexus

SNPshotrs2303428
SNPdbers2303428
MSV3drs2303428
GWAS Ctlgrs2303428
GMAF0.1286
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 19741564] Effect of DNA repair host factors on temozolomide or dacarbazine melanoma treatment in Caucasians


ClinVar
Risk rs2303428(A,C,G;A,C,G)
Alt rs2303428(A,C,G;A,C,G)
Reference rs2303428(T;T)
Significance Non-pathogenic
Disease Lynch syndrome not specified Lynch syndrome I
Variation info
Gene MSH2
CLNDBN Lynch syndrome not specified Lynch syndrome I
Reversed 0
HGVS NC_000002.11:g.47703500T>C; NC_000002.11:g.47703500T>G
CLNSRC HGMD International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000030247.3, RCV000035359.8, RCV000144621.1, RCV000076352.2,



[PMID 16985024] Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2.

[PMID 19930554OA-icon.png] Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.

[PMID 20386703OA-icon.png] Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.

[PMID 10978353OA-icon.png] Recurrent germline mutation in MSH2 arises frequently de novo.

[PMID 17374836] MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.

[PMID 18325052] Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma.