Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777520(-;-)
Make rs587777520(-;C)
ReferenceGRCh38 38.1/142
Chromosome9
Position69228022
GeneTJP2
is asnp
is mentioned by
dbSNPrs587777520
ebirs587777520
HLIrs587777520
Exacrs587777520
Varsomers587777520
Maprs587777520
PheGenIrs587777520
hapmaprs587777520
1000 genomesrs587777520
hgdprs587777520
ensemblrs587777520
gopubmedrs587777520
geneviewrs587777520
scholarrs587777520
googlers587777520
pharmgkbrs587777520
gwascentralrs587777520
openSNPrs587777520
23andMers587777520
23andMe allrs587777520
SNP Nexus

SNPshotrs587777520
SNPdbers587777520
MSV3drs587777520
GWAS Ctlgrs587777520
Max Magnitude0
ClinVar
Risk rs587777520(;)
Alt rs587777520(;)
Reference rs587777520(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.71842938delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000128572.2,