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rs387906527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906527(-;-)
Make rs387906527(-;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position87439686
GeneABCB4
is asnp
is mentioned by
dbSNPrs387906527
ebirs387906527
HLIrs387906527
Exacrs387906527
Varsomers387906527
Maprs387906527
PheGenIrs387906527
hapmaprs387906527
1000 genomesrs387906527
hgdprs387906527
ensemblrs387906527
gopubmedrs387906527
geneviewrs387906527
scholarrs387906527
googlers387906527
pharmgkbrs387906527
gwascentralrs387906527
openSNPrs387906527
23andMers387906527
23andMe allrs387906527
SNP Nexus

SNPshotrs387906527
SNPdbers387906527
MSV3drs387906527
GWAS Ctlgrs387906527
Max Magnitude0
ClinVar
Risk rs387906527(;)
Alt rs387906527(;)
Reference rs387906527(T;T)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 3 Cholestasis
Variation info
Gene ABCB4
CLNDBN Progressive familial intrahepatic cholestasis 3 Cholestasis, intrahepatic, of pregnancy 3
Reversed 1
HGVS NC_000007.13:g.87069002delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000014685.20, RCV000033064.26,