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rs10483639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common/normal
Make rs10483639(C;C)
Make rs10483639(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position54839739
GeneGCH1
is asnp
is mentioned by
dbSNPrs10483639
dbSNP (classic)rs10483639
ClinGenrs10483639
ebirs10483639
HLIrs10483639
Exacrs10483639
Gnomadrs10483639
Varsomers10483639
LitVarrs10483639
Maprs10483639
PheGenIrs10483639
Biobankrs10483639
1000 genomesrs10483639
hgdprs10483639
ensemblrs10483639
geneviewrs10483639
scholarrs10483639
googlers10483639
pharmgkbrs10483639
gwascentralrs10483639
openSNPrs10483639
23andMers10483639
SNPshotrs10483639
SNPdbers10483639
MSV3drs10483639
GWAS Ctlgrs10483639
GMAF0.2948
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Do genetic predictors of pain sensitivity associate with persistent widespread pain? C allele associated with higher pain tolerance.[PMID 19775452OA-icon.png]

GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function. Part of a haplotype, rs10483639(C)-rs3783641(A)-rs8007267(T), associated with lower levels of tetrahydrobiopterin.[PMID 18598896OA-icon.png]


[PMID 17343757OA-icon.png] Lack of influence of GTP cyclohydrolase gene (GCH1) variations on pain sensitivity in humans.


[PMID 17363416] Reliable screening for a pain-protective haplotype in the GTP cyclohydrolase 1 gene (GCH1) through the use of 3 or fewer single nucleotide polymorphisms.


[PMID 19751821OA-icon.png] Oxidative risk for atherothrombotic cardiovascular disease.


[PMID 20633294OA-icon.png] Different SNP combinations in the GCH1 gene and use of labor analgesia.


[PMID 23059057OA-icon.png] A GCH1 haplotype and risk of neural tube defects in the National Birth Defects Prevention Study


[PMID 25218601OA-icon.png] Epistasis Between Polymorphisms in COMT, ESR1, and GCH1 Influences COMT Enzyme Activity and Pain