BRD2, bromodomain containing 2, 6046

N. diseases: 303; N. variants: 20
Disease: Galactosemias ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs949142013
rs949142013
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
CUI: C0016952
Disease:
Galactosemias 		0.010 GeneticVariation BEFREE Possession of GALT polymorphisms previously linked with low GALT activity, including the Q188R mutation of classic galactosemia or N314D mutation of the Duarte galactosemia variant, was associated with significantly higher FSH, even in the heterozygous state. 7962282 1994