Have questions? Visit https://www.reddit.com/r/SNPedia

rs4987188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs4987188(A;A)
Make rs4987188(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47416318
GeneMSH2
is asnp
is mentioned by
dbSNPrs4987188
dbSNP (classic)rs4987188
ClinGenrs4987188
ebirs4987188
HLIrs4987188
Exacrs4987188
Gnomadrs4987188
Varsomers4987188
LitVarrs4987188
Maprs4987188
PheGenIrs4987188
Biobankrs4987188
1000 genomesrs4987188
hgdprs4987188
ensemblrs4987188
geneviewrs4987188
scholarrs4987188
googlers4987188
pharmgkbrs4987188
gwascentralrs4987188
openSNPrs4987188
23andMers4987188
SNPshotrs4987188
SNPdbers4987188
MSV3drs4987188
GWAS Ctlgrs4987188
GMAF0.009183
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM609309
DescMSH2 POLYMORPHISM
Variant0010
Relatedalso


ClinVar
Risk rs4987188(A;A) rs4987188(T;T)
Alt rs4987188(A;A) rs4987188(T;T)
Reference Rs4987188(G;G)
Significance Non-pathogenic
Disease MSH2 POLYMORPHISM Lynch syndrome not provided not specified Lynch syndrome I Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN MSH2 POLYMORPHISM Lynch syndrome not provided not specified Lynch syndrome I Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47643457G>A; NC_000002.11:g.47643457G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001832.2, RCV000030257.6, RCV000034561.3, RCV000121567.3, RCV000144615.1, RCV000157760.5, RCV000131668.3, RCV000203979.1, RCV000410421.1, RCV000482522.1,



[PMID 17119116OA-icon.png] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.


[PMID 19029193OA-icon.png] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.


[PMID 19389263OA-icon.png] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.


[PMID 11920] Isolation and partial characterization of an histidine-rich polypeptide from parotid saliva of the monkey, Macaca nemestrina.


[PMID 10469597] Mutator phenotypes of common polymorphisms and missense mutations in MSH2.


[PMID 12624141OA-icon.png] Cancer risk in 348 French MSH2 or MLH1 gene carriers.


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


[PMID 18383312] Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).


[PMID 18470917] Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.


[PMID 25134804OA-icon.png] Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women


[PMID 25804231] Polymorphism of DNA mismatch repair genes in endometrial cancer


[PMID 29181059OA-icon.png] Polymorphism of MSH2 Gly322Asp and MLH1 -93G>A in non-familial colon cancer - a case-controlled study.