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rs794727183

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727183(A;A)
Make rs794727183(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position87423905
GeneABCB4
is asnp
is mentioned by
dbSNPrs794727183
dbSNP (classic)rs794727183
ClinGenrs794727183
ebirs794727183
HLIrs794727183
Exacrs794727183
Gnomadrs794727183
Varsomers794727183
LitVarrs794727183
Maprs794727183
PheGenIrs794727183
Biobankrs794727183
1000 genomesrs794727183
hgdprs794727183
ensemblrs794727183
geneviewrs794727183
scholarrs794727183
googlers794727183
pharmgkbrs794727183
gwascentralrs794727183
openSNPrs794727183
23andMers794727183
SNPshotrs794727183
SNPdbers794727183
MSV3drs794727183
GWAS Ctlgrs794727183
Max Magnitude0
ClinVar
Risk rs794727183(A;A)
Alt rs794727183(A;A)
Reference Rs794727183(G;G)
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.87053221C>T
CLNSRC
CLNACC RCV000175138.1,