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rs863225298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225298(C;G)
Make rs863225298(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position87443683
GeneABCB4
is asnp
is mentioned by
dbSNPrs863225298
dbSNP (classic)rs863225298
ClinGenrs863225298
ebirs863225298
HLIrs863225298
Exacrs863225298
Gnomadrs863225298
Varsomers863225298
LitVarrs863225298
Maprs863225298
PheGenIrs863225298
Biobankrs863225298
1000 genomesrs863225298
hgdprs863225298
ensemblrs863225298
geneviewrs863225298
scholarrs863225298
googlers863225298
pharmgkbrs863225298
gwascentralrs863225298
openSNPrs863225298
23andMers863225298
SNPshotrs863225298
SNPdbers863225298
MSV3drs863225298
GWAS Ctlgrs863225298
Max Magnitude0
ClinVar
Risk rs863225298(G;G)
Alt rs863225298(G;G)
Reference Rs863225298(C;C)
Significance Probable-Pathogenic
Disease Progressive familial intrahepatic cholestasis 3
Variation info
Gene ABCB4
CLNDBN Progressive familial intrahepatic cholestasis 3
Reversed 1
HGVS NC_000007.13:g.87072999G>C
CLNSRC
CLNACC RCV000201938.1,