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rs2230028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2230028(A;G)
Make rs2230028(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position87426860
GeneABCB4
is asnp
is mentioned by
dbSNPrs2230028
dbSNP (classic)rs2230028
ClinGenrs2230028
ebirs2230028
HLIrs2230028
Exacrs2230028
Gnomadrs2230028
Varsomers2230028
LitVarrs2230028
Maprs2230028
PheGenIrs2230028
Biobankrs2230028
1000 genomesrs2230028
hgdprs2230028
ensemblrs2230028
geneviewrs2230028
scholarrs2230028
googlers2230028
pharmgkbrs2230028
gwascentralrs2230028
openSNPrs2230028
23andMers2230028
SNPshotrs2230028
SNPdbers2230028
MSV3drs2230028
GWAS Ctlgrs2230028
Max Magnitude0

[PMID 27158408OA-icon.png] Prevalence of ABCB4 polymorphisms in gallstone disease in han-Chinese population.


ClinVar
Risk rs2230028(C;C) rs2230028(G;G)
Alt rs2230028(C;C) rs2230028(G;G)
Reference Rs2230028(A;A)
Significance Non-pathogenic
Disease not specified Familial Intrahepatic Cholestasis Progressive intrahepatic cholestasis
Variation info
Gene ABCB4
CLNDBN not specified Familial Intrahepatic Cholestasis Progressive intrahepatic cholestasis
Reversed 1
HGVS NC_000007.13:g.87056176T>C
CLNSRC
CLNACC RCV000245480.3, RCV000295673.1, RCV000343693.1,