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rs3745516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 Increased risk of developing primary biliary cirrhosis
(A;G) 1.5 Slightly increased risk of developing primary biliary cirrhosis
(G;G) 1 Normal risk of developing primary biliary cirrhosis
ReferenceGRCh38 38.1/141
Chromosome19
Position50423485
GeneSPIB
is asnp
is mentioned by
dbSNPrs3745516
dbSNP (classic)rs3745516
ClinGenrs3745516
ebirs3745516
HLIrs3745516
Exacrs3745516
Gnomadrs3745516
Varsomers3745516
LitVarrs3745516
Maprs3745516
PheGenIrs3745516
Biobankrs3745516
1000 genomesrs3745516
hgdprs3745516
ensemblrs3745516
geneviewrs3745516
scholarrs3745516
googlers3745516
pharmgkbrs3745516
gwascentralrs3745516
openSNPrs3745516
23andMers3745516
SNPshotrs3745516
SNPdbers3745516
MSV3drs3745516
GWAS Ctlgrs3745516
GMAF0.4968
Max Magnitude2
? (A;A) (A;G) (G;G) 28


GWAS snp
PMID [PMID 20639880OA-icon.png]
Trait Primary biliary cirrhosis
Title Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis
Risk Allele A
P-val 8E-11
Odds Ratio 1.46 [NR]

Each A allele of this SNP in the SPIB gene is associated with 1.46 times higher odds of primary biliary cirrhosis. [PMID 20639880OA-icon.png]

GWAS snp
PMID [PMID 21399635OA-icon.png]
Trait
Title Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
Risk Allele A
P-val 2E-13
Odds Ratio 1.3800 [1.32-1.44]


[PMID 20639879OA-icon.png] Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.


[PMID 21506939] Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort.