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rs1126497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 1.4 1.4x increased risk for breast cancer
(T;T) 1.4 1.4x increased risk for breast cancer
ReferenceGRCh38 38.1/141
Chromosome2
Position47373967
GeneEPCAM
is asnp
is mentioned by
dbSNPrs1126497
ebirs1126497
HLIrs1126497
Exacrs1126497
Varsomers1126497
Maprs1126497
PheGenIrs1126497
hapmaprs1126497
1000 genomesrs1126497
hgdprs1126497
ensemblrs1126497
gopubmedrs1126497
geneviewrs1126497
scholarrs1126497
googlers1126497
pharmgkbrs1126497
gwascentralrs1126497
openSNPrs1126497
23andMers1126497
23andMe allrs1126497
SNP Nexus

SNPshotrs1126497
SNPdbers1126497
MSV3drs1126497
GWAS Ctlgrs1126497
GMAF0.3398
Max Magnitude1.4
? (C;C) (C;T) (T;T) 28
rs1126497, also known as Thr115Met, is a SNP in the epithelial cell adhesion molecule EPCAM gene.

In a study of case control study of 1643 individuals with breast cancer and 1818 control subjects in Eastern and Southern Chinese populations, the rs1126497(T) allele was associated with a 1.4x increased risk (CI: 1.16-1.57), and it was also associated with early breast cancer onset (p=0.0023). [PMID 20683652]

[PMID 22322561] Functional polymorphism in the EpCAM gene is associated with occurrence and advanced disease status of cervical cancer in Chinese population.


GET Evidence
EPCAM-M115T
aa_change Met115Thr
aa_change_short M115T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.568786
summary



[PMID 24304228OA-icon.png] Polymorphisms of EpCAM gene and prognosis for non-small-cell lung cancer in Han Chinese


[PMID 26115884] Single nucleotide polymorphisms of the EpCAM-coding gene TACSTD1 in patients with ovarian cancer and their potential translational aspects


ClinVar
Risk rs1126497(C;C)
Alt rs1126497(C;C)
Reference rs1126497(T;T)
Significance Non-pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene EPCAM
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47601106T>C
CLNSRC
CLNACC RCV000162369.1,