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rs886042381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome9
Position69234464
GeneTJP2
is asnp
is mentioned by
dbSNPrs886042381
dbSNP (classic)rs886042381
ClinGenrs886042381
ebirs886042381
HLIrs886042381
Exacrs886042381
Gnomadrs886042381
Varsomers886042381
LitVarrs886042381
Maprs886042381
PheGenIrs886042381
Biobankrs886042381
1000 genomesrs886042381
hgdprs886042381
ensemblrs886042381
geneviewrs886042381
scholarrs886042381
googlers886042381
pharmgkbrs886042381
gwascentralrs886042381
openSNPrs886042381
23andMers886042381
SNPshotrs886042381
SNPdbers886042381
MSV3drs886042381
GWAS Ctlgrs886042381
Max Magnitude0
ClinVar
Risk rs886042381(A;A)
Alt rs886042381(A;A)
Reference Rs886042381(T;T)
Significance Pathogenic
Disease Progressive familial intrahepatic cholestasis 4
Variation info
Gene TJP2
CLNDBN Progressive familial intrahepatic cholestasis 4
Reversed 0
HGVS NC_000009.11:g.71849380T>A
CLNSRC
CLNACC RCV000347898.1,