Disease: Klinefelter Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893844
rs104893844
Entrez Id: 2798;550112
Gene Symbol: GNRHR;UBA6-AS1
GNRHR;UBA6-AS1
CUI: C0022735
Disease:
Klinefelter Syndrome 		0.010 GeneticVariation BEFREE In humans, E90K causes severe HH by preventing formation of the E90-K121 salt bridge, which is essential for correct folding. 22918878 2012