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

rs193922369

From SNPedia

Merged intors63751221
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922369(C;T)
Make rs193922369(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37001045
GeneMLH1
is asnp
is mentioned by
dbSNPrs193922369
ebirs193922369
HLIrs193922369
Exacrs193922369
Varsomers193922369
Maprs193922369
PheGenIrs193922369
hapmaprs193922369
1000 genomesrs193922369
hgdprs193922369
ensemblrs193922369
gopubmedrs193922369
geneviewrs193922369
scholarrs193922369
googlers193922369
pharmgkbrs193922369
gwascentralrs193922369
openSNPrs193922369
23andMers193922369
23andMe allrs193922369
SNP Nexus

SNPshotrs193922369
SNPdbers193922369
MSV3drs193922369
GWAS Ctlgrs193922369
StatusMerged into rs63751221
Max Magnitude0
ClinVar
Risk rs193922369(T;T)
Alt rs193922369(T;T)
Reference rs193922369(C;C)
Significance Pathogenic
Disease Hereditary non-polyposis colon cancer
Variation info
Gene
CLNDBN Hereditary non-polyposis colon cancer
Reversed 0
HGVS NC_000003.11:g.37042536C>T
CLNSRC Correlagen
CLNACC


[PMID 17312] [Gerontology in rural and mountains regions aged people in the country and in mountain regions (author's transl)].


[PMID 10480359] Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.


[PMID 14512394] Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer.


[PMID 15235038OA-icon.png] Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.


[PMID 15872200] Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).


[PMID 18415027] Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.