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rs12785878

From SNPedia

Orientationplus
Stabilizedplus
Make rs12785878(G;G)
Make rs12785878(G;T)
Make rs12785878(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position71456403
GeneNADSYN1
is asnp
is mentioned by
dbSNPrs12785878
ebirs12785878
HLIrs12785878
Exacrs12785878
Varsomers12785878
Maprs12785878
PheGenIrs12785878
hapmaprs12785878
1000 genomesrs12785878
hgdprs12785878
ensemblrs12785878
gopubmedrs12785878
geneviewrs12785878
scholarrs12785878
googlers12785878
pharmgkbrs12785878
gwascentralrs12785878
openSNPrs12785878
23andMers12785878
23andMe allrs12785878
SNP Nexus

SNPshotrs12785878
SNPdbers12785878
MSV3drs12785878
GWAS Ctlgrs12785878
GMAF0.4715
Max Magnitude
? (G;G) (G;T) (T;T) 28
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

rs12785878, located near the 7-dehydrocholesterol reductase DHCR7 gene on chromosome 11q12, has been linked by several studies to vitamin D serum concentrations.

In both studies, the allele associated with lower vitamin D, and thus the potential for vitamin D insufficiency, is rs12785878(G). Carriers of two such alleles have lower vitamin D than carriers of one allele, who in turn on average have lower vitamin D levels than rs12785878(T;T) individuals.10.1016/S0140-6736(10)60588-0

A near-perfect proxy (i.e. substitute) for rs12785878 appears to be rs7944926.

GWAS snp
PMID [PMID 20541252OA-icon.png]
Trait Vitamin D insufficiency
Title Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
Risk Allele
P-val 2E-27
Odds Ratio None None


[PMID 22130326] ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

[PMID 22613962OA-icon.png] Genetic Influences on Vitamin D Status and Forearm Fracture Risk in African American Children.


[PMID 22701574OA-icon.png] Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis


[PMID 23734184OA-icon.png] Genetic Analyses Reveal a Role for Vitamin D Insufficiency in HCV-Associated Hepatocellular Carcinoma Development


[PMID 23924835] Genetic variant in vitamin D binding protein is associated with serum 25-hydroxyvitamin D and vitamin D insufficiency in southern Chinese


[PMID 23979957OA-icon.png] Association between vitamin D metabolism gene polymorphisms and risk of islet autoimmunity and progression to type 1 diabetes: the diabetes autoimmunity study in the young (DAISY)


[PMID 22801813] The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children.


[PMID 23319826] Vitamin D and mortality: a Mendelian randomization study.


[PMID 23730842] Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients.


[PMID 23793229] Association of common gene variants in vitamin D modulating genes and colon cancer recurrence.


[PMID 25906790] Determinants of serum 25(OH)D concentration in young and middle-aged adults. The Cardiovascular Risk in Young Finns Study


[PMID 26149120OA-icon.png] Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes