SERPINA6, serpin family A member 6, 866

N. diseases: 68; N. variants: 4
Disease: Corticosteroid-Binding Globulin Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929488
rs28929488
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C1852529
Disease:
Corticosteroid-Binding Globulin Deficiency 		0.810 GeneticVariation BEFREE Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred. 12780753 2003
dbSNP: rs28929488
rs28929488
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C1852529
Disease:
Corticosteroid-Binding Globulin Deficiency 		T 0.810 GeneticVariation CLINVAR
dbSNP: rs28929488
rs28929488
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C1852529
Disease:
Corticosteroid-Binding Globulin Deficiency 		0.810 GeneticVariation UNIPROT
dbSNP: rs28929488
rs28929488
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C1852529
Disease:
Corticosteroid-Binding Globulin Deficiency 		T 0.810 CausalMutation CLINVAR
dbSNP: rs113418909
rs113418909
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C1852529
Disease:
Corticosteroid-Binding Globulin Deficiency 		0.700 GeneticVariation UNIPROT Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency. 17245537 2007
dbSNP: rs113418909
rs113418909
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C1852529
Disease:
Corticosteroid-Binding Globulin Deficiency 		0.700 GeneticVariation UNIPROT Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. 10634411 2000
dbSNP: rs113418909
rs113418909
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C1852529
Disease:
Corticosteroid-Binding Globulin Deficiency 		0.700 GeneticVariation UNIPROT Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. 8212073 1993
dbSNP: rs113418909
rs113418909
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C1852529
Disease:
Corticosteroid-Binding Globulin Deficiency 		0.700 GeneticVariation UNIPROT A Leu----His substitution at residue 93 in human corticosteroid binding globulin results in reduced affinity for cortisol. 1504007 1992