Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1462893414
rs1462893414
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.030 GeneticVariation BEFREE These preliminary results suggest that OCs may interact with the ESR1 A908G mutant receptor to drive the development of some breast tumors. 17553133

2007
dbSNP: rs1462893414
rs1462893414
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.030 GeneticVariation BEFREE Consistent with our previous finding of this somatic ERalpha mutation in breast ductal hyperplasias, we now present evidence that the A908G mutation is present in invasive breast tumors using an optimized sequencing method. 17545528

2007
dbSNP: rs1462893414
rs1462893414
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.030 GeneticVariation BEFREE The ER-alpha A908G mutation was found more frequently in higher-grade bre</span>ast tumors (odds ratio (OR) 2.83; 95% confidence interval (CI) 1.09 to 7.34, grade II compared with grade I), and in mixed lobular/ductal tumors (OR 2.10; 95% CI 0.86 to 5.12) compared with ductal carcinomas, although the latter finding was not statistically significant. 16280033

2005