CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
Disease: Mean Corpuscular Volume (result) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1047891
rs1047891
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs1047891
rs1047891
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016