Disease: Klinefelter Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894897
rs104894897
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0022735
Disease:
Klinefelter Syndrome 		0.010 GeneticVariation BEFREE All DAX-1 missense mutant constructs showed marked loss of repressor function, with the exception of I439S, a mutation previously shown to be associated with delayed-onset adrenal failure and incomplete hypogonadotropic hypogonadism. 11443184 2001