rs11249433, EMBP1

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE Further, among carriers of rs11249433, the highest risk was seen for E-cadherin low tumors that were ER-positive and of lobular histology. 24292867 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in BC susceptibility and confer its effect primarily in estrogen receptor-positive and progesterone receptor-positive tumors. 23977306 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE In addition, we found that rs11249433 polymorphism on 1p11 confer risk, exclusively for ER-positive tumors with per-allele OR of 1.13 (95% CI: 1.08-1.18; P <10(-5)) compared to ER-negative tumors of 1.01 (95% CI: 0.98-1.04; P=0.49). 23977314 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE Therefore, increased expression of NOTCH2 in carriers of rs11249433 may promote development of ER+ luminal tumors. 20482849 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE A pericentromeric SNP on chromosome 1p11.2 (rs11249433; P = 6.74 x 10(-10) adjusted genotype test, 2 degrees of freedom) resides in a large linkage disequilibrium block neighboring NOTCH2 and FCGR1B; this signal was stronger for estrogen-receptor-positive tumors. 19330030 2009