Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852821
rs137852821
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
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
dbSNP: rs137852821
rs137852821
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.800 GeneticVariation UNIPROT Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. 14617756

2003
dbSNP: rs137852821
rs137852821
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
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
dbSNP: rs137852821
rs137852821
PCSK1 ; LOC101929710
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		T 0.800 CausalMutation CLINVAR