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rs886043734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Chromosome7
Position87417368
GeneABCB4
is asnp
is mentioned by
dbSNPrs886043734
dbSNP (classic)rs886043734
ClinGenrs886043734
ebirs886043734
HLIrs886043734
Exacrs886043734
Gnomadrs886043734
Varsomers886043734
LitVarrs886043734
Maprs886043734
PheGenIrs886043734
Biobankrs886043734
1000 genomesrs886043734
hgdprs886043734
ensemblrs886043734
geneviewrs886043734
scholarrs886043734
googlers886043734
pharmgkbrs886043734
gwascentralrs886043734
openSNPrs886043734
23andMers886043734
23andMe allrs886043734
SNPshotrs886043734
SNPdbers886043734
MSV3drs886043734
GWAS Ctlgrs886043734
Max Magnitude0
ClinVar
Risk rs886043734(AT;AT)
Alt rs886043734(AT;AT)
Reference Rs886043734(TC;TC)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 3
Variation info
Gene ABCB4
CLNDBN Progressive familial intrahepatic cholestasis 3
Reversed 0
HGVS NC_000007.13:g.87046684_87046685delTCinsAT
CLNSRC
CLNACC RCV000394729.1,