rs193922369

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs193922369(C;T)

Make rs193922369(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37001045

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs193922369
dbSNP (classic)	rs193922369
ClinGen	rs193922369
ebi	rs193922369
HLI	rs193922369
Exac	rs193922369
Gnomad	rs193922369
Varsome	rs193922369
LitVar	rs193922369
Map	rs193922369
PheGenI	rs193922369
Biobank	rs193922369
1000 genomes	rs193922369
hgdp	rs193922369
ensembl	rs193922369
geneview	rs193922369
scholar	rs193922369
google	rs193922369
pharmgkb	rs193922369
gwascentral	rs193922369
openSNP	rs193922369
23andMe	rs193922369
SNPshot	rs193922369
SNPdbe	rs193922369
MSV3d	rs193922369
GWAS Ctlg	rs193922369

Status

Merged into rs63751221

Max Magnitude

0

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 15235038 ] 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.