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rs6426749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs6426749(C;C)
Make rs6426749(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position22384980
is asnp
is mentioned by
dbSNPrs6426749
dbSNP (classic)rs6426749
ClinGenrs6426749
ebirs6426749
HLIrs6426749
Exacrs6426749
Gnomadrs6426749
Varsomers6426749
LitVarrs6426749
Maprs6426749
PheGenIrs6426749
Biobankrs6426749
1000 genomesrs6426749
hgdprs6426749
ensemblrs6426749
geneviewrs6426749
scholarrs6426749
googlers6426749
pharmgkbrs6426749
gwascentralrs6426749
openSNPrs6426749
23andMers6426749
SNPshotrs6426749
SNPdbers6426749
MSV3drs6426749
GWAS Ctlgrs6426749
GMAF0.2167
Max Magnitude0
? (C;C) (C;G) (G;G) 28


GWAS snp
PMID [PMID 19801982OA-icon.png]
Trait Bone mineral density (hip)
Title Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies
Risk Allele C
P-val 9E-8
Odds Ratio 0.08 [0.05-0.11] sd increase
GWAS snp
PMID [PMID 22504420OA-icon.png]
Trait
Title Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Risk Allele C
P-val 0
Odds Ratio 0.1100 None


[PMID 29706346OA-icon.png] An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation. The regulatory model proposed in this paper suggests that the rs6426749(G) allele ultimately suppresses CDC42 expression, leading to (slightly) decreased bone mineral density and thereby increased osteoporosis incidence.