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rs864321697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321697(-;-)
Make rs864321697(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position69221361
GeneTJP2
is asnp
is mentioned by
dbSNPrs864321697
dbSNP (classic)rs864321697
ClinGenrs864321697
ebirs864321697
HLIrs864321697
Exacrs864321697
Gnomadrs864321697
Varsomers864321697
LitVarrs864321697
Maprs864321697
PheGenIrs864321697
Biobankrs864321697
1000 genomesrs864321697
hgdprs864321697
ensemblrs864321697
geneviewrs864321697
scholarrs864321697
googlers864321697
pharmgkbrs864321697
gwascentralrs864321697
openSNPrs864321697
23andMers864321697
SNPshotrs864321697
SNPdbers864321697
MSV3drs864321697
GWAS Ctlgrs864321697
Max Magnitude0
ClinVar
Risk rs864321697(-;-)
Alt rs864321697(-;-)
Reference Rs864321697(G;G)
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.71836277delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000203574.2,