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rs188824058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs188824058(C;T)
Make rs188824058(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position168972025
GeneABCB11
is asnp
is mentioned by
dbSNPrs188824058
dbSNP (old)rs188824058
ClinGenrs188824058
ebirs188824058
HLIrs188824058
Exacrs188824058
Gnomadrs188824058
Varsomers188824058
Maprs188824058
PheGenIrs188824058
Biobankrs188824058
1000 genomesrs188824058
hgdprs188824058
ensemblrs188824058
gopubmedrs188824058
geneviewrs188824058
scholarrs188824058
googlers188824058
pharmgkbrs188824058
gwascentralrs188824058
openSNPrs188824058
23andMers188824058
23andMe allrs188824058
SNPshotrs188824058
SNPdbers188824058
MSV3drs188824058
GWAS Ctlgrs188824058
Max Magnitude0
ClinVar
Risk rs188824058(T;T)
Alt rs188824058(T;T)
Reference Rs188824058(C;C)
Significance Probable-Pathogenic
Disease Progressive familial intrahepatic cholestasis 2
Variation info
Gene ABCB11
CLNDBN Progressive familial intrahepatic cholestasis 2
Reversed 0
HGVS NC_000002.11:g.169828535C>T
CLNSRC
CLNACC RCV000396656.1,