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rs72547505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72547505(C;T)
Make rs72547505(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position103049423
GeneSLC10A2
is asnp
is mentioned by
dbSNPrs72547505
ebirs72547505
HLIrs72547505
Exacrs72547505
Varsomers72547505
Maprs72547505
PheGenIrs72547505
hapmaprs72547505
1000 genomesrs72547505
hgdprs72547505
ensemblrs72547505
gopubmedrs72547505
geneviewrs72547505
scholarrs72547505
googlers72547505
pharmgkbrs72547505
gwascentralrs72547505
openSNPrs72547505
23andMers72547505
23andMe allrs72547505
SNP Nexus

SNPshotrs72547505
SNPdbers72547505
MSV3drs72547505
GWAS Ctlgrs72547505
GMAF0.0009183
Max Magnitude0
OMIM601295
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72547505(A,T;A,T)
Alt rs72547505(A,T;A,T)
Reference rs72547505(C;C)
Significance Pathogenic
Disease Bile acid malabsorption
Variation info
Gene SLC10A2
CLNDBN Bile acid malabsorption, primary
Reversed 1
HGVS NC_000013.10:g.103701773G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008724.4,



[PMID 19823678OA-icon.png] A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.