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rs175081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs175081(C;T)
Make rs175081(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position75047180
GeneMLH3
is asnp
is mentioned by
dbSNPrs175081
ebirs175081
HLIrs175081
Exacrs175081
Varsomers175081
Maprs175081
PheGenIrs175081
hapmaprs175081
1000 genomesrs175081
hgdprs175081
ensemblrs175081
gopubmedrs175081
geneviewrs175081
scholarrs175081
googlers175081
pharmgkbrs175081
gwascentralrs175081
openSNPrs175081
23andMers175081
23andMe allrs175081
SNP Nexus

SNPshotrs175081
SNPdbers175081
MSV3drs175081
GWAS Ctlgrs175081
GMAF0.006887
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene MLH3
allele C
frequency 1
sift TOLERATED
HuRef 1103649100222
Disease Association Defects in MLH3 are the cause of hereditary non-polyposis colorectal cancer type 7 (HNPCC7) (MIM:604395). Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term ""suspected HNPCC"" or ""incomplete HNPCC"" can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.



Neighborrs28756986
Distance606


GET Evidence
MLH3-N826D
aa_change Asn826Asp
aa_change_short N826D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.98866
summary