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rs41360247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs41360247(C;C)
Make rs41360247(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position43846517
GeneABCG8, LOC102725159
is asnp
is mentioned by
dbSNPrs41360247
dbSNP (classic)rs41360247
ClinGenrs41360247
ebirs41360247
HLIrs41360247
Exacrs41360247
Gnomadrs41360247
Varsomers41360247
LitVarrs41360247
Maprs41360247
PheGenIrs41360247
Biobankrs41360247
1000 genomesrs41360247
hgdprs41360247
ensemblrs41360247
geneviewrs41360247
scholarrs41360247
googlers41360247
pharmgkbrs41360247
gwascentralrs41360247
openSNPrs41360247
23andMers41360247
SNPshotrs41360247
SNPdbers41360247
MSV3drs41360247
GWAS Ctlgrs41360247
GMAF0.07759
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Rs41360247
PubMed [PMID 17632509]
Affy Probeset SNP_A-1791411
Affy Orientation same
On GW 5.0 1
Alleles A/B C/T
Ancestral
Population EU(German)
Allele C
Case Freq. 0.18
Control Freq. 0.05
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All 2.30
Disease Gallstone disease (GSD)


rs41360247 increases susceptibility to Gallstone disease 2.30 times for carriers of the C allele [PMID 17632509]

[PMID 20529992] Genetic Regulation of Serum Phytosterol Levels and Risk of Coronary Artery Disease


[PMID 23707316] High intestinal cholesterol absorption is associated with cardiovascular disease and risk alleles in ABCG8 and ABO: evidence from the LURIC and YFS cohorts and from a meta-analysis