rs1998056
|
SERPINA6
|
Liver carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, our study suggested that SERPINA6-rs1998056 regulated by FOXA/ERα might be associated with female HCC risk.
|
25198130 |
2014 |
rs941601
|
SERPINA6
|
Pain
|
|
0.010 |
GeneticVariation |
BEFREE |
Multiple SNPs in SERPINA6 were associated with the maximum number of pain sites; for example, each copy of the T allele of rs941601 was associated with having 16% (proportional change=1.16, 95% CI 1.04 to 1.28, p=0.006) more pain sites compared to participants with the CC genotype.
|
19723618 |
2010 |
rs113418909
|
SERPINA6
|
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 |
rs113418909
|
SERPINA6
|
Corticosteroid-Binding Globulin Deficiency
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity.
|
10634411 |
2000 |
rs113418909
|
SERPINA6
|
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 |
rs113418909
|
SERPINA6
|
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 |
rs28929488
|
SERPINA6
|
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 |
rs28929488
|
SERPINA6
|
Corticosteroid-Binding Globulin Deficiency
|
T |
0.810 |
GeneticVariation |
CLINVAR |
|
|
|
rs28929488
|
SERPINA6
|
Corticosteroid-Binding Globulin Deficiency
|
|
0.810 |
GeneticVariation |
UNIPROT |
|
|
|
rs28929488
|
SERPINA6
|
Corticosteroid-Binding Globulin Deficiency
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|