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rs193922371

From SNPedia

Merged intors63750245
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922371(C;T)
Make rs193922371(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47416383
GeneMSH2
is asnp
is mentioned by
dbSNPrs193922371
ebirs193922371
HLIrs193922371
Exacrs193922371
Varsomers193922371
Maprs193922371
PheGenIrs193922371
hapmaprs193922371
1000 genomesrs193922371
hgdprs193922371
ensemblrs193922371
gopubmedrs193922371
geneviewrs193922371
scholarrs193922371
googlers193922371
pharmgkbrs193922371
gwascentralrs193922371
openSNPrs193922371
23andMers193922371
23andMe allrs193922371
SNP Nexus

SNPshotrs193922371
SNPdbers193922371
MSV3drs193922371
GWAS Ctlgrs193922371
StatusMerged into rs63750245
Max Magnitude0
ClinVar
Risk rs193922371(T;T)
Alt rs193922371(T;T)
Reference rs193922371(C;C)
Significance Pathogenic
Disease Hereditary non-polyposis colon cancer
Variation info
Gene
CLNDBN Hereditary non-polyposis colon cancer
Reversed 0
HGVS NC_000002.11:g.47643522C>T
CLNSRC Correlagen
CLNACC


[PMID 12655568] Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.

[PMID 15571801] Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.

[PMID 18772310] Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.