rs864321697
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs864321697(-;-) |
Make rs864321697(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 69221361 |
Gene | TJP2 |
is a | snp |
is | mentioned by |
dbSNP | rs864321697 |
dbSNP (classic) | rs864321697 |
ClinGen | rs864321697 |
ebi | rs864321697 |
HLI | rs864321697 |
Exac | rs864321697 |
Gnomad | rs864321697 |
Varsome | rs864321697 |
LitVar | rs864321697 |
Map | rs864321697 |
PheGenI | rs864321697 |
Biobank | rs864321697 |
1000 genomes | rs864321697 |
hgdp | rs864321697 |
ensembl | rs864321697 |
geneview | rs864321697 |
scholar | rs864321697 |
rs864321697 | |
pharmgkb | rs864321697 |
gwascentral | rs864321697 |
openSNP | rs864321697 |
23andMe | rs864321697 |
SNPshot | rs864321697 |
SNPdbe | rs864321697 |
MSV3d | rs864321697 |
GWAS Ctlg | rs864321697 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321697(-;-) |
Alt | rs864321697(-;-) |
Reference | Rs864321697(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.71836277delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203574.2, |