BRD2, bromodomain containing 2, 6046

N. diseases: 303; N. variants: 20
Disease: Ovarian Failure, Premature ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757975291
rs757975291
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
CUI: C0085215
Disease:
Ovarian Failure, Premature 		0.020 GeneticVariation BEFREE Functional analysis of the human inhibin alpha subunit variant A257T and its potential role in premature ovarian failure. 17933751 2007
dbSNP: rs757975291
rs757975291
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
CUI: C0085215
Disease:
Ovarian Failure, Premature 		0.020 GeneticVariation BEFREE We found the Ala257Thr missense mutation in INHalpha gene with high statistical significance in POF (nine out of 80, 11.2%) (Fisher's exact test, P = 0.0005), primary amenorrhoea (three out of 33, 9.1%) (Fisher's exact test, P = 0.014) and secondary amenorrhoea (two out of four, 50%) (Fisher's exact test, P = 0.001) with complete absence of this mutation in controls (none out of 100). 15205401 2004