rs886044313
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Chromosome | 9 |
Position | 69221042 |
Gene | TJP2 |
is a | snp |
is | mentioned by |
dbSNP | rs886044313 |
dbSNP (classic) | rs886044313 |
ClinGen | rs886044313 |
ebi | rs886044313 |
HLI | rs886044313 |
Exac | rs886044313 |
Gnomad | rs886044313 |
Varsome | rs886044313 |
LitVar | rs886044313 |
Map | rs886044313 |
PheGenI | rs886044313 |
Biobank | rs886044313 |
1000 genomes | rs886044313 |
hgdp | rs886044313 |
ensembl | rs886044313 |
geneview | rs886044313 |
scholar | rs886044313 |
rs886044313 | |
pharmgkb | rs886044313 |
gwascentral | rs886044313 |
openSNP | rs886044313 |
23andMe | rs886044313 |
SNPshot | rs886044313 |
SNPdbe | rs886044313 |
MSV3d | rs886044313 |
GWAS Ctlg | rs886044313 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044313(G;G) |
Alt | rs886044313(G;G) |
Reference | Rs886044313(-;-) |
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.71835958dupG |
CLNSRC | |
CLNACC | RCV000398816.1, |