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rs4588

From SNPedia

Affects vitamin D levels
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4588(A;A)
Make rs4588(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position71752606
GeneGC
is asnp
is mentioned by
dbSNPrs4588
ebirs4588
HLIrs4588
Exacrs4588
Varsomers4588
Maprs4588
PheGenIrs4588
hapmaprs4588
1000 genomesrs4588
hgdprs4588
ensemblrs4588
gopubmedrs4588
geneviewrs4588
scholarrs4588
googlers4588
pharmgkbrs4588
gwascentralrs4588
openSNPrs4588
23andMers4588
23andMe allrs4588
SNP Nexus

SNPshotrs4588
SNPdbers4588
MSV3drs4588
GWAS Ctlgrs4588
GMAF0.2163
Max Magnitude0
? (A;A) (A;C) (C;C) 28

see rs2282679, a near-perfect proxy for rs4588


[PMID 19488670OA-icon.png] Vitamin D binding protein genotype and osteoporosis


[PMID 20363324] A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations

[PMID 19996341] Vitamin D deficiency is highly prevalent in COPD and correlates with variants in the vitamin D-binding gene

[PMID 20812960] Vitamin D-binding protein polymorphisms are not associated with development of (multiple) basal cell carcinomas

OMIM139200
Desc
Variant0001
Relatedalso
[PMID 21844098OA-icon.png] Reduced Serum Vitamin D-Binding Protein Levels Are Associated With Type 1 Diabetes


[PMID 22328951OA-icon.png] GC Glu416Asp and Thr420Lys polymorphisms contribute to gastrointestinal cancer susceptibility in a Chinese population


[PMID 22213340] 25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease


[PMID 22610885] Vitamin D binding protein gene polymorphisms and baseline vitamin D levels as predictors of antiviral response in chronic hepatitis C.


ClinVar
Risk rs4588(A,T;A,T)
Alt rs4588(A,T;A,T)
Reference rs4588(C;C)
Significance Non-pathogenic
Disease GC1/GC2 POLYMORPHISM
Variation info
Gene GC
CLNDBN GC1/GC2 POLYMORPHISM
Reversed 1
HGVS NC_000004.11:g.72618323G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017356.3,



[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[PMID 17054776OA-icon.png] The genetics of chronic obstructive pulmonary disease.

[PMID 17244366OA-icon.png] Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.

[PMID 18559548] The Gc2 allele of the vitamin D binding protein is associated with a decreased postmenopausal breast cancer risk, independent of the vitamin D status.

[PMID 18593774OA-icon.png] Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.

[PMID 19116321] Genetic polymorphisms of the vitamin D binding protein and plasma concentrations of 25-hydroxyvitamin D in premenopausal women.

[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.

[PMID 20031567OA-icon.png] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.

[PMID 21972121] Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans.

[PMID 22583563OA-icon.png] Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.


GET Evidence
GC-T436K
aa_change Thr436Lys
aa_change_short T436K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.226157
summary



[PMID 23505139] An analysis of the association between the vitamin D pathway and serum 25-hydroxyvitamin D levels in a healthy Chinese population


[PMID 23169318] Genetic sequence variants in vitamin D metabolism pathway genes, serum vitamin D level and outcome in head and neck cancer patients


[PMID 23734748OA-icon.png] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes


[PMID 23556437OA-icon.png] Changes in circulating 25-hydroxyvitamin D according to vitamin D binding protein genotypes after vitamin D₃ or D₂supplementation


[PMID 23456391OA-icon.png] Serum vitamin D metabolites in colorectal cancer patients receiving cholecalciferol supplementation: correlation with polymorphisms in the vitamin D genes


[PMID 24568525] Lack of Associations between Vitamin D Metabolism-Related Gene Variants and Risk of Colorectal Cancer


[PMID 23070913] Association of vitamin D binding protein polymorphism with long-term kidney allograft survival in Hispanic kidney transplant recipients.


[PMID 23191998] Genetic variations in the vitamin D binding protein and season-specific levels of vitamin D among older adults.


[PMID 23427793OA-icon.png] Common variants of the vitamin D binding protein gene and adverse health outcomes.


[PMID 23923033OA-icon.png] The association between plasma 25-hydroxyvitamin D and subgroups in age-related macular degeneration: a cross-sectional study


[PMID 25174667] Environmental and Genetic Determinants of Vitamin D Insufficiency in 12-month-old Infants


[PMID 25652210OA-icon.png] Vitamin D binding protein genotype is associated with plasma 25OHD concentration in West African children


[PMID 25527766] Common variants in CYP2R1 and GC genes are both determinants of serum 25-hydroxyvitamin D concentrations after UVB irradiation and after consumption of vitamin D₃-fortified bread and milk during winter in Denmark


[PMID 25211176] Determinants of vitamin D status in Caucasian adults: influence of sun exposure, dietary intake, sociodemographic, lifestyle, anthropometric, and genetic factors


[PMID 25920689] The associations of 25-hydroxyvitamin D levels, vitamin D binding protein gene polymorphisms, and race with risk of incident fracture-related hospitalization: Twenty-year follow-up in a bi-ethnic cohort (the ARIC Study)


[PMID 25962507OA-icon.png] Vitamin D, vitamin D binding protein gene polymorphisms, race and risk of incident stroke: the Atherosclerosis Risk in Communities (ARIC) study


[PMID 25993554OA-icon.png] The DBP Phenotype Gc-1f/Gc-1f Is Associated with Reduced Risk of Cancer. The Tromsø Study


[PMID 26383826] Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients


[PMID 26404398] Hypovitaminosis D in a Young Lebanese Population: Effect of GC Gene Polymorphisms on Vitamin D and Vitamin D Binding Protein Levels


[PMID 27570856] Genetic influence on circulating vitamin D among Saudi Arabians.