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rs587777518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCCT;GCCT) 0 common in clinvar
Make rs587777518(-;-)
Make rs587777518(-;GCCT)
ReferenceGRCh38 38.1/142
Chromosome9
Position69221310
GeneTJP2
is asnp
is mentioned by
dbSNPrs587777518
ebirs587777518
HLIrs587777518
Exacrs587777518
Varsomers587777518
Maprs587777518
PheGenIrs587777518
hapmaprs587777518
1000 genomesrs587777518
hgdprs587777518
ensemblrs587777518
gopubmedrs587777518
geneviewrs587777518
scholarrs587777518
googlers587777518
pharmgkbrs587777518
gwascentralrs587777518
openSNPrs587777518
23andMers587777518
23andMe allrs587777518
SNP Nexus

SNPshotrs587777518
SNPdbers587777518
MSV3drs587777518
GWAS Ctlgrs587777518
Max Magnitude0
ClinVar
Risk rs587777518(;)
Alt rs587777518(;)
Reference rs587777518(GCCT;GCCT)
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.71836226_71836229delGCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000128570.2,