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rs147649016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147649016(C;T)
Make rs147649016(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position168990800
GeneABCB11
is asnp
is mentioned by
dbSNPrs147649016
dbSNP (old)rs147649016
ClinGenrs147649016
ebirs147649016
HLIrs147649016
Exacrs147649016
Gnomadrs147649016
Varsomers147649016
Maprs147649016
PheGenIrs147649016
Biobankrs147649016
1000 genomesrs147649016
hgdprs147649016
ensemblrs147649016
gopubmedrs147649016
geneviewrs147649016
scholarrs147649016
googlers147649016
pharmgkbrs147649016
gwascentralrs147649016
openSNPrs147649016
23andMers147649016
23andMe allrs147649016
SNPshotrs147649016
SNPdbers147649016
MSV3drs147649016
GWAS Ctlgrs147649016
Max Magnitude0
ClinVar
Risk rs147649016(T;T)
Alt rs147649016(T;T)
Reference Rs147649016(C;C)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 2 Benign recurrent intrahepatic cholestasis 2
Variation info
Gene ABCB11
CLNDBN Progressive familial intrahepatic cholestasis 2 Benign recurrent intrahepatic cholestasis 2
Reversed 0
HGVS NC_000002.11:g.169847310C>T
CLNSRC
CLNACC RCV000277672.1, RCV000330551.1,