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rs4647269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4647269(C;T)
Make rs4647269(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37016100
GeneMLH1
is asnp
is mentioned by
dbSNPrs4647269
ebirs4647269
HLIrs4647269
Exacrs4647269
Varsomers4647269
Maprs4647269
PheGenIrs4647269
hapmaprs4647269
1000 genomesrs4647269
hgdprs4647269
ensemblrs4647269
gopubmedrs4647269
geneviewrs4647269
scholarrs4647269
googlers4647269
pharmgkbrs4647269
gwascentralrs4647269
openSNPrs4647269
23andMers4647269
23andMe allrs4647269
SNP Nexus

SNPshotrs4647269
SNPdbers4647269
MSV3drs4647269
GWAS Ctlgrs4647269
GMAF0.2975
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 22594646OA-icon.png] Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility


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


ClinVar
Risk rs4647269(T;T)
Alt rs4647269(T;T)
Reference rs4647269(C;C)
Significance Non-pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37057591C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075859.2,