Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1440086679
rs1440086679
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
CUI: C0232939
Disease:
Primary physiologic amenorrhea
0.010 GeneticVariation BEFREE We have identified a novel homozygous mutation C(1723)T (Ala(575)Val) in one woman with primary amenorrhea. 20237833 2010