rs2559850
This is a regulatory region variant variant in the CHPT1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.19
p 1.0e-49
N 10,708
Large GWAS
European
cathepsin L2 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.13
p 1.0e-24
N 10,708
Large GWAS
European
vitamin C measurement
Zheng JS et al. “Plasma Vitamin C and Type 2 Diabetes: Genome-Wide Association Study and Mendelian Randomization Analysis in European Populations.” Diabetes Care 44(1):98-106 (2021)
Allele A
OR 0.06
p 6.0e-20
N 52,018
Large GWAS
European
blood protein amount
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele G
OR 0.17
p 1.0e-19
N 5,365
Large GWAS
European
glycosyltransferase-like protein LARGE1 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.11
p 1.0e-17
N 10,708
Large GWAS
European
About CHPT1
Enables diacylglycerol cholinephosphotransferase activity. Involved in phosphatidylcholine biosynthetic process and platelet activating factor biosynthetic process. Is active in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all CHPT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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