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rs520354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 increased risk in men for biliary conditions
(A;G) 2 increased risk in men for biliary conditions
(G;G) 1 normal risk in men for biliary conditions
ReferenceGRCh38 38.1/141
Chromosome2
Position21036740
GeneAPOB
is asnp
is mentioned by
dbSNPrs520354
dbSNP (classic)rs520354
ClinGenrs520354
ebirs520354
HLIrs520354
Exacrs520354
Gnomadrs520354
Varsomers520354
LitVarrs520354
Maprs520354
PheGenIrs520354
Biobankrs520354
1000 genomesrs520354
hgdprs520354
ensemblrs520354
geneviewrs520354
scholarrs520354
googlers520354
pharmgkbrs520354
gwascentralrs520354
openSNPrs520354
23andMers520354
SNPshotrs520354
SNPdbers520354
MSV3drs520354
GWAS Ctlgrs520354
GMAF0.4977
Max Magnitude2
? (A;A) (A;G) (G;G) 28


rs520354 is a SNP in an intron of the apolipoprotein B APOB gene; it is also known as the IVS6+360C>T variant.

In a study of ~1,000 Chinese patients with various biliary tract conditions, including cancer and gallstones, men carrying a rs520354(A) allele had a 2x risk of bile duct cancer (CI: 1.2-3.4).[PMID 18296645OA-icon.png]


[PMID 18252230OA-icon.png] TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.


[PMID 19888660OA-icon.png] Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.