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

rs864321695

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321695(G;T)
Make rs864321695(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position69248011
GeneTJP2
is asnp
is mentioned by
dbSNPrs864321695
ebirs864321695
HLIrs864321695
Exacrs864321695
Varsomers864321695
Maprs864321695
PheGenIrs864321695
hapmaprs864321695
1000 genomesrs864321695
hgdprs864321695
ensemblrs864321695
gopubmedrs864321695
geneviewrs864321695
scholarrs864321695
googlers864321695
pharmgkbrs864321695
gwascentralrs864321695
openSNPrs864321695
23andMers864321695
23andMe allrs864321695
SNP Nexus

SNPshotrs864321695
SNPdbers864321695
MSV3drs864321695
GWAS Ctlgrs864321695
Max Magnitude0
ClinVar
Risk rs864321695(T;T)
Alt rs864321695(T;T)
Reference rs864321695(G;G)
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.71862927G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203578.1,