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

rs1800734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800734(A;A)
Make rs1800734(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position36993455
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs1800734
ebirs1800734
HLIrs1800734
Exacrs1800734
Varsomers1800734
Maprs1800734
PheGenIrs1800734
hapmaprs1800734
1000 genomesrs1800734
hgdprs1800734
ensemblrs1800734
gopubmedrs1800734
geneviewrs1800734
scholarrs1800734
googlers1800734
pharmgkbrs1800734
gwascentralrs1800734
openSNPrs1800734
23andMers1800734
23andMe allrs1800734
SNP Nexus

SNPshotrs1800734
SNPdbers1800734
MSV3drs1800734
GWAS Ctlgrs1800734
GMAF0.3145
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 18712731] colorectal cancer (-93G>A, rs1800734) 1,518 patients with CRC, homozygosity for the MLH1 -93A variant was associated with a significantly increased 3-fold risk of CRC negative for MLH1 protein by immunohistochemistry (odds ratio (OR): AA vs GG = 3.30, 95% CI 1.46-7.47, n = 1392, p = 0.004, MLH1 negative vs MLH1 positive CRC) and with a 68% excess of proximal CRC (OR: AA vs GG=1.68, 95% confidence interval (CI) 1.00-2.83, n = 1,518, p = 0.05, proximal vs distal CRC)

OMIM120436
DescMutL, E. COLI, HOMOLOG OF, 1; MLH1
Variant
Relatedalso



[PMID 21093954] Polymorphisms of MLH1 and MSH2 genes and the risk of lung cancer among never smokers

OMIM120436
Desc
Variant0026
Relatedalso
[PMID 20967208OA-icon.png] Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer


[PMID 21565826] MLH1-93G>A is a risk factor for MSI colorectal cancer


[PMID 17230510] Evidence for heritable predisposition to epigenetic silencing of MLH1.


[PMID 18523027OA-icon.png] Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors.


[PMID 19930554OA-icon.png] Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.


[PMID 20860725] MLH1 Differential allelic expression in mutation carriers and controls.


[PMID 22294770] Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer.


[PMID 22371642OA-icon.png] Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.


GET Evidence
rs1800734
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.234375
summary



[PMID 24325908] Analysis of dna repair gene polymorphisms in glioblastoma


[PMID 25252909] Mismatch Repair Gene Polymorphisms and Association with Lung Cancer Development


ClinVar
Risk rs1800734(A;A)
Alt rs1800734(A;A)
Reference rs1800734(G;G)
Significance Non-pathogenic
Disease Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene EPM2AIP1 MLH1
CLNDBN Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.37034946G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075069.2, RCV000215209.1,



[PMID 25804231] Polymorphism of DNA mismatch repair genes in endometrial cancer


[PMID 25986311] Association between MutL homolog 1 polymorphisms and the risk of colorectal cancer: a meta-analysis


[PMID 25252713OA-icon.png] Factors modifying the risk for developing acute skin toxicity after whole-breast intensity modulated radiotherapy