rs4321325
This is a intron variant variant in the CYP27C1 gene.
▶Research that mentions this SNP (1)
▶Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) StudyAssociationN=2,701Munir MS et al.(2014)· Genetic Epidemiology
Genome-wide association study of plasma protein C levels in 2,701 African Americans from the ARIC study identified 79 genome-wide significant SNPs in two regions (2q14 and 20q11). The top signal was rs867186 (missense, S219G in PROCR; p=9.84×10⁻⁶⁵, β=0.49 µg/ml, 10% variance explained). Additional significant hits were rs7580658 and rs1799808 near the PROC gene, and novel associations with CYP27C1 and MYO7B were discovered.
About CYP27C1
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]
View all CYP27C1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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