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rs1060499579

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499579(C;T)
Make rs1060499579(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position168944925
GeneABCB11
is asnp
is mentioned by
dbSNPrs1060499579
dbSNP (old)rs1060499579
ClinGenrs1060499579
ebirs1060499579
HLIrs1060499579
Exacrs1060499579
Gnomadrs1060499579
Varsomers1060499579
Maprs1060499579
PheGenIrs1060499579
Biobankrs1060499579
1000 genomesrs1060499579
hgdprs1060499579
ensemblrs1060499579
gopubmedrs1060499579
geneviewrs1060499579
scholarrs1060499579
googlers1060499579
pharmgkbrs1060499579
gwascentralrs1060499579
openSNPrs1060499579
23andMers1060499579
23andMe allrs1060499579
SNPshotrs1060499579
SNPdbers1060499579
MSV3drs1060499579
GWAS Ctlgrs1060499579
Max Magnitude0
ClinVar
Risk rs1060499579(T;T)
Alt rs1060499579(T;T)
Reference Rs1060499579(C;C)
Significance Pathogenic
Disease Benign recurrent intrahepatic cholestasis 2 Progressive familial intrahepatic cholestasis 2
Variation info
Gene ABCB11
CLNDBN Benign recurrent intrahepatic cholestasis 2 Progressive familial intrahepatic cholestasis 2
Reversed 1
HGVS NC_000002.11:g.169801435G>A
CLNSRC
CLNACC RCV000477943.1,