Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929488
rs28929488
SERPINA6
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
SERPINA6
T 0.810 GeneticVariation CLINVAR

dbSNP: rs28929488
rs28929488
SERPINA6
0.810 GeneticVariation UNIPROT

dbSNP: rs28929488
rs28929488
SERPINA6
T 0.810 CausalMutation CLINVAR

dbSNP: rs113418909
rs113418909
SERPINA6
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
SERPINA6
0.700 GeneticVariation UNIPROT Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. 10634411

2000
dbSNP: rs113418909
rs113418909
SERPINA6
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
SERPINA6
0.700 GeneticVariation UNIPROT A Leu----His substitution at residue 93 in human corticosteroid binding globulin results in reduced affinity for cortisol. 1504007

1992