|| common in clinvar
|?|| (C;C) (C;G) (G;G) ||28|
| Disease Association
|| Defects in PCSK1 are the cause of proprotein convertase 1 deficiency (PC1 deficiency) (MIM:600955). This disease is characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.
|Desc||BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12|
|Desc||PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1|
] Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample
[PMID 20498726] Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.
[PMID 22000902] Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1/3 biosynthesis and activity.
|| Insufficiently evaluated pharmacogenetic
[PMID 23383060] Functional Consequences of a Novel Variant of PCSK1
[PMID 24489861] Genetic Variants in PCSK1 Gene Are Associated with the Risk of Coronary Artery Disease in Type 2 Diabetes in a Chinese Han Population: A Case Control Study
[PMID 24964673] Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters
[PMID 26207343] Revisiting PC1/3 mutants: dominant-negative effect of endoplasmic reticulum-retained mutants