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rs193922373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922373(A;A)
Make rs193922373(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47408493
GeneMSH2
is asnp
is mentioned by
dbSNPrs193922373
ebirs193922373
HLIrs193922373
Exacrs193922373
Varsomers193922373
Maprs193922373
PheGenIrs193922373
hapmaprs193922373
1000 genomesrs193922373
hgdprs193922373
ensemblrs193922373
gopubmedrs193922373
geneviewrs193922373
scholarrs193922373
googlers193922373
pharmgkbrs193922373
gwascentralrs193922373
openSNPrs193922373
23andMers193922373
23andMe allrs193922373
SNP Nexus

SNPshotrs193922373
SNPdbers193922373
MSV3drs193922373
GWAS Ctlgrs193922373
Max Magnitude0
ClinVar
Risk rs193922373(A;A)
Alt rs193922373(A;A)
Reference rs193922373(G;G)
Significance Probable-non-pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not specified
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not specified
Reversed 0
HGVS NC_000002.11:g.47635632G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000030251.3, RCV000130254.2, RCV000236541.1,


[PMID 12200596] Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer.


[PMID 17192056] The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.


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