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rs11568372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs11568372(A;G)
Make rs11568372(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position168990819
GeneABCB11
is asnp
is mentioned by
dbSNPrs11568372
dbSNP (old)rs11568372
ClinGenrs11568372
ebirs11568372
HLIrs11568372
Exacrs11568372
Varsomers11568372
Maprs11568372
PheGenIrs11568372
Biobankrs11568372
1000 genomesrs11568372
hgdprs11568372
ensemblrs11568372
gopubmedrs11568372
geneviewrs11568372
scholarrs11568372
googlers11568372
pharmgkbrs11568372
gwascentralrs11568372
openSNPrs11568372
23andMers11568372
23andMe allrs11568372
SNP Nexus

SNPshotrs11568372
SNPdbers11568372
MSV3drs11568372
GWAS Ctlgrs11568372
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM603201
DescCHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
Variant0002
Relatedalso


ClinVar
Risk rs11568372(G;G)
Alt rs11568372(G;G)
Reference Rs11568372(A;A)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 2 Benign recurrent intrahepatic cholestasis 2 Familial Intrahepatic Cholestasis
Variation info
Gene ABCB11
CLNDBN Progressive familial intrahepatic cholestasis 2 Benign recurrent intrahepatic cholestasis 2 Familial Intrahepatic Cholestasis
Reversed 1
HGVS NC_000002.11:g.169847329T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006968.3, RCV000258070.2, RCV000403023.1,