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rs387907317

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387907317(-;-)
Make rs387907317(-;C)
Make rs387907317(C;C)
ReferenceGRCh37.p10 37.5/138
Chromosome2
Position169780330
GeneABCB11
is asnp
is mentioned by
dbSNPrs387907317
ebirs387907317
HLIrs387907317
Exacrs387907317
Varsomers387907317
Maprs387907317
PheGenIrs387907317
hapmaprs387907317
1000 genomesrs387907317
hgdprs387907317
ensemblrs387907317
gopubmedrs387907317
geneviewrs387907317
scholarrs387907317
googlers387907317
pharmgkbrs387907317
gwascentralrs387907317
openSNPrs387907317
23andMers387907317
23andMe allrs387907317
SNP Nexus

SNPshotrs387907317
SNPdbers387907317
MSV3drs387907317
GWAS Ctlgrs387907317
Max Magnitude0
ClinVar
Risk rs387907317(C;C)
Alt rs387907317(C;C)
Reference rs387907317(;)
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.169780331dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000032591.3,