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rs1057518679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518679(-;-)
Make rs1057518679(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position69227797
GeneTJP2
is asnp
is mentioned by
dbSNPrs1057518679
dbSNP (old)rs1057518679
ClinGenrs1057518679
ebirs1057518679
HLIrs1057518679
Exacrs1057518679
Gnomadrs1057518679
Varsomers1057518679
LitVarrs1057518679
Maprs1057518679
PheGenIrs1057518679
Biobankrs1057518679
1000 genomesrs1057518679
hgdprs1057518679
ensemblrs1057518679
gopubmedrs1057518679
geneviewrs1057518679
scholarrs1057518679
googlers1057518679
pharmgkbrs1057518679
gwascentralrs1057518679
openSNPrs1057518679
23andMers1057518679
23andMe allrs1057518679
SNPshotrs1057518679
SNPdbers1057518679
MSV3drs1057518679
GWAS Ctlgrs1057518679
Max Magnitude0
ClinVar
Risk rs1057518679(-;-)
Alt rs1057518679(-;-)
Reference Rs1057518679(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.71842713delT
CLNSRC
CLNACC RCV000415040.1,