Normal allele: GG
This SNP is part of CYP2R1, which encodes a key C-25 hydroxylase that converts vitamin D3 to the active ligand of the vitamin D receptor.
Polymorphism rs2060793 is related to topics like this:
Research and publications:
20418485 Genome-wide association study of circulating vitamin D levels.
20541252 Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
22613962 Genetic influences on vitamin D status and forearm fracture risk in African American children.
26448018 Variants in Vitamin D Binding Protein Gene Are Associated With Gestational Diabetes Mellitus.
27652346 Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk.
29220424 Genetically deprived vitamin D exposure predisposes to atrial fibrillation.
29291743 SNPs related to vitamin D and breast cancer risk: a case-control study.
29892565 The genetic determinants of circulating C3-epimers of 25-hydroxyvitamin D.
31206955 Vitamin D level and gene polymorphisms in Korean children with type 1 diabetes.
31357732 Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer.
31475028 Host Genetic Determinants of Hepatitis B Virus Infection.
32764491 Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case-Control Association Study.