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rs864321696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864321696(-;T)
Make rs864321696(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position69240019
GeneTJP2
is asnp
is mentioned by
dbSNPrs864321696
ClinGenrs864321696
ebirs864321696
HLIrs864321696
Exacrs864321696
Varsomers864321696
Maprs864321696
PheGenIrs864321696
hapmaprs864321696
1000 genomesrs864321696
hgdprs864321696
ensemblrs864321696
gopubmedrs864321696
geneviewrs864321696
scholarrs864321696
googlers864321696
pharmgkbrs864321696
gwascentralrs864321696
openSNPrs864321696
23andMers864321696
23andMe allrs864321696
SNP Nexus

SNPshotrs864321696
SNPdbers864321696
MSV3drs864321696
GWAS Ctlgrs864321696
Max Magnitude0
ClinVar
Risk rs864321696(T;T)
Alt rs864321696(T;T)
Reference Rs864321696(-;-)
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.71854935dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000203571.2,