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rs387906528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs387906528(AG;CAA)
Make rs387906528(CAA;CAA)
ReferenceGRCh38 38.1/141
Chromosome7
Position87443346
GeneABCB4
is asnp
is mentioned by
dbSNPrs387906528
dbSNP (classic)rs387906528
ClinGenrs387906528
ebirs387906528
HLIrs387906528
Exacrs387906528
Gnomadrs387906528
Varsomers387906528
LitVarrs387906528
Maprs387906528
PheGenIrs387906528
Biobankrs387906528
1000 genomesrs387906528
hgdprs387906528
ensemblrs387906528
geneviewrs387906528
scholarrs387906528
googlers387906528
pharmgkbrs387906528
gwascentralrs387906528
openSNPrs387906528
23andMers387906528
SNPshotrs387906528
SNPdbers387906528
MSV3drs387906528
GWAS Ctlgrs387906528
Max Magnitude0
ClinVar
Risk rs387906528(CAA;CAA)
Alt rs387906528(CAA;CAA)
Reference Rs387906528(AG;AG)
Significance Pathogenic
Disease Cholecystitis Cholestasis
Variation info
Gene ABCB4
CLNDBN Cholecystitis Cholestasis, intrahepatic, of pregnancy 3
Reversed 1
HGVS NC_000007.13:g.87072662_87072663delCTinsTTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000014692.26, RCV000033066.25,