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rs587777519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777519(-;-)
Make rs587777519(-;C)
ReferenceGRCh38 38.1/142
Chromosome9
Position69221429
GeneTJP2
is asnp
is mentioned by
dbSNPrs587777519
ebirs587777519
HLIrs587777519
Exacrs587777519
Varsomers587777519
Maprs587777519
PheGenIrs587777519
hapmaprs587777519
1000 genomesrs587777519
hgdprs587777519
ensemblrs587777519
gopubmedrs587777519
geneviewrs587777519
scholarrs587777519
googlers587777519
pharmgkbrs587777519
gwascentralrs587777519
openSNPrs587777519
23andMers587777519
23andMe allrs587777519
SNP Nexus

SNPshotrs587777519
SNPdbers587777519
MSV3drs587777519
GWAS Ctlgrs587777519
Max Magnitude0
ClinVar
Risk rs587777519(;)
Alt rs587777519(;)
Reference rs587777519(C;C)
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.71836345delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000128571.2,