rs1126497

plus

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

Reference

GRCh38 38.1/141

Chromosome

2

Position

47373967

Gene

EPCAM

is a	snp
is	mentioned by
dbSNP	rs1126497
dbSNP (classic)	rs1126497
ClinGen	rs1126497
ebi	rs1126497
HLI	rs1126497
Exac	rs1126497
Gnomad	rs1126497
Varsome	rs1126497
LitVar	rs1126497
Map	rs1126497
PheGenI	rs1126497
Biobank	rs1126497
1000 genomes	rs1126497
hgdp	rs1126497
ensembl	rs1126497
geneview	rs1126497
scholar	rs1126497
google	rs1126497
pharmgkb	rs1126497
gwascentral	rs1126497
openSNP	rs1126497
23andMe	rs1126497
SNPshot	rs1126497
SNPdbe	rs1126497
MSV3d	rs1126497
GWAS Ctlg	rs1126497

GMAF

0.3398

Max Magnitude

1.4

?

(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.

[PMID 24304228 ] 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	Probable-non-pathogenic
Disease	Hereditary cancer-predisposing syndrome not specified Lynch syndrome
Variation	info
Gene	EPCAM
CLNDBN	Hereditary cancer-predisposing syndrome not specified Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.47601106T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000162369.1, RCV000244202.1, RCV000298863.1,