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rs387906529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906529(-;-)
Make rs387906529(-;G)
Make rs387906529(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position87423947
GeneABCB4
is asnp
is mentioned by
dbSNPrs387906529
ebirs387906529
HLIrs387906529
Exacrs387906529
Varsomers387906529
Maprs387906529
PheGenIrs387906529
hapmaprs387906529
1000 genomesrs387906529
hgdprs387906529
ensemblrs387906529
gopubmedrs387906529
geneviewrs387906529
scholarrs387906529
googlers387906529
pharmgkbrs387906529
gwascentralrs387906529
openSNPrs387906529
23andMers387906529
23andMe allrs387906529
SNP Nexus

SNPshotrs387906529
SNPdbers387906529
MSV3drs387906529
GWAS Ctlgrs387906529
Max Magnitude0
ClinVar
Risk rs387906529(G;G)
Alt rs387906529(G;G)
Reference rs387906529(;)
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.87053264dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014693.25,