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rs387906526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TATATAC;TATATAC) 0 common in clinvar
Make rs387906526(-;-)
Make rs387906526(-;TATATAC)
ReferenceGRCh38 38.1/141
Chromosome7
Position87453080
GeneABCB4
is asnp
is mentioned by
dbSNPrs387906526
ebirs387906526
HLIrs387906526
Exacrs387906526
Varsomers387906526
Maprs387906526
PheGenIrs387906526
hapmaprs387906526
1000 genomesrs387906526
hgdprs387906526
ensemblrs387906526
gopubmedrs387906526
geneviewrs387906526
scholarrs387906526
googlers387906526
pharmgkbrs387906526
gwascentralrs387906526
openSNPrs387906526
23andMers387906526
23andMe allrs387906526
SNP Nexus

SNPshotrs387906526
SNPdbers387906526
MSV3drs387906526
GWAS Ctlgrs387906526
Max Magnitude0
ClinVar
Risk rs387906526(;)
Alt rs387906526(;)
Reference rs387906526(TATATAC;TATATAC)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 3
Variation info
Gene ABCB4
CLNDBN Progressive familial intrahepatic cholestasis 3
Reversed 1
HGVS NC_000007.13:g.87082396_87082402delGTATATA
CLNSRC OMIM Allelic Variant
CLNACC RCV000014682.24,