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rs587777521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777521(A;G)
Make rs587777521(G;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position69236947
GeneTJP2
is asnp
is mentioned by
dbSNPrs587777521
ebirs587777521
HLIrs587777521
Exacrs587777521
Varsomers587777521
Maprs587777521
PheGenIrs587777521
hapmaprs587777521
1000 genomesrs587777521
hgdprs587777521
ensemblrs587777521
gopubmedrs587777521
geneviewrs587777521
scholarrs587777521
googlers587777521
pharmgkbrs587777521
gwascentralrs587777521
openSNPrs587777521
23andMers587777521
23andMe allrs587777521
SNP Nexus

SNPshotrs587777521
SNPdbers587777521
MSV3drs587777521
GWAS Ctlgrs587777521
Max Magnitude0
ClinVar
Risk rs587777521(G;G)
Alt rs587777521(G;G)
Reference rs587777521(A;A)
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.71851863A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128573.2,