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rs387906354

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906354(A;C)
Make rs387906354(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position169014300
GeneABCB11
is asnp
is mentioned by
dbSNPrs387906354
ebirs387906354
HLIrs387906354
Exacrs387906354
Varsomers387906354
Maprs387906354
PheGenIrs387906354
hapmaprs387906354
1000 genomesrs387906354
hgdprs387906354
ensemblrs387906354
gopubmedrs387906354
geneviewrs387906354
scholarrs387906354
googlers387906354
pharmgkbrs387906354
gwascentralrs387906354
openSNPrs387906354
23andMers387906354
23andMe allrs387906354
SNP Nexus

SNPshotrs387906354
SNPdbers387906354
MSV3drs387906354
GWAS Ctlgrs387906354
Max Magnitude0
ClinVar
Risk rs387906354(C;C)
Alt rs387906354(C;C)
Reference rs387906354(A;A)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 2
Variation info
Gene ABCB11
CLNDBN Progressive familial intrahepatic cholestasis 2
Reversed 1
HGVS NC_000002.11:g.169870810T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006972.3,