Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1060499649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499649(A;A)
Make rs1060499649(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position69226175
GeneTJP2
is asnp
is mentioned by
dbSNPrs1060499649
dbSNP (old)rs1060499649
ClinGenrs1060499649
ebirs1060499649
HLIrs1060499649
Exacrs1060499649
Gnomadrs1060499649
Varsomers1060499649
Maprs1060499649
PheGenIrs1060499649
Biobankrs1060499649
1000 genomesrs1060499649
hgdprs1060499649
ensemblrs1060499649
gopubmedrs1060499649
geneviewrs1060499649
scholarrs1060499649
googlers1060499649
pharmgkbrs1060499649
gwascentralrs1060499649
openSNPrs1060499649
23andMers1060499649
23andMe allrs1060499649
SNPshotrs1060499649
SNPdbers1060499649
MSV3drs1060499649
GWAS Ctlgrs1060499649
Max Magnitude0
ClinVar
Risk rs1060499649(A;A)
Alt rs1060499649(A;A)
Reference Rs1060499649(G;G)
Significance Probable-Pathogenic
Disease Progressive familial intrahepatic cholestasis 4
Variation info
Gene TJP2
CLNDBN Progressive familial intrahepatic cholestasis 4
Reversed 0
HGVS NC_000009.11:g.71841091G>A
CLNSRC
CLNACC RCV000449597.1,