SHBG, sex hormone binding globulin, 6462

N. diseases: 368; N. variants: 20
Disease: Protein S Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1022228924
rs1022228924
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0242666
Disease:
Protein S Deficiency 		0.010 GeneticVariation BEFREE It was concluded that the Gly295-to-Ser mutation and Val46-to-Leu mutation cause type I protein S deficiency and that the Lys9-to-Glu mutation causes type II deficiency. 9651142 1998