|
rs6235
|
PCSK1;LOC101929710
|
Insulin measurement
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.
|
23263489 |
2013 |
|
rs6235
|
PCSK1;LOC101929710
|
Insulin measurement
|
G |
0.800 |
GeneticVariation |
GWASDB |
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
|
21873549 |
2011 |
|
rs6235
|
PCSK1;LOC101929710
|
Insulin measurement
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
|
21873549 |
2011 |
|
rs137852821
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
|
17595246 |
2007 |
|
rs137852824
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
|
17595246 |
2007 |
|
rs137852821
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
|
14617756 |
2003 |
|
rs137852824
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
|
14617756 |
2003 |
|
rs137852821
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
|
9207799 |
1997 |
|
rs137852824
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
|
9207799 |
1997 |
|
rs137852821
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs137852824
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs6234
|
PCSK1;LOC101929710
|
Body Height
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs6235
|
PCSK1;LOC101929710
|
Body mass index
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
rs6235
|
PCSK1;LOC101929710
|
Body mass index
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs6235
|
PCSK1;LOC101929710
|
Lean body mass
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
|
30593698 |
2019 |
|
rs566921725
|
PCSK1;LOC101929710
|
Blood Protein Measurement
|
GTTTTT |
0.700 |
GeneticVariation |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
rs6234
|
PCSK1;LOC101929710
|
Blood Protein Measurement
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
rs6234
|
PCSK1;LOC101929710
|
Body mass index
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
|
29273807 |
2018 |
|
rs6234
|
PCSK1;LOC101929710
|
Fasting blood glucose measurement
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
|
25625282 |
2015 |
|
rs6235
|
PCSK1;LOC101929710
|
Fasting blood glucose measurement
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
|
23903356 |
2013 |
|
rs137852822
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs137852823
|
PCSK1;LOC101929710
|
Proprotein Convertase 1 3 Deficiency
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs6232
|
PCSK1;LOC101929710
|
Obesity
|
|
0.100 |
GeneticVariation |
BEFREE |
Taken together, these data suggest that the increased obesity risk linked to the N221D allele in humans may be due in part to PC1/3-induced loss of resilience to stressors rather than strictly to decreased enzymatic activity on peptide precursors.
|
31504391 |
2019 |
|
rs6232
|
PCSK1;LOC101929710
|
Obesity
|
|
0.100 |
GeneticVariation |
BEFREE |
Coimmunoprecipitation of PC1/3-N222D and human PC1/3 variants associated with obesity with the endoplasmic reticulum (ER) chaperone BiP was studied in cell lines.
|
26786350 |
2016 |
|
rs6232
|
PCSK1;LOC101929710
|
Obesity
|
|
0.100 |
GeneticVariation |
BEFREE |
Significant associations were found with binary obesity status for rs6232 (OR = 1.15, 95% CI 1.06-1.24, P = 6.08 × 10(-6)) and rs6234/rs6235 (OR = 1.07, 95% CI 1.04-1.10, P = 3.00 × 10(-7)).
|
25784503 |
2015 |