rs1060499649
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060499649(A;A) |
Make rs1060499649(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 69226175 |
Gene | TJP2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499649 |
dbSNP (classic) | rs1060499649 |
ClinGen | rs1060499649 |
ebi | rs1060499649 |
HLI | rs1060499649 |
Exac | rs1060499649 |
Gnomad | rs1060499649 |
Varsome | rs1060499649 |
LitVar | rs1060499649 |
Map | rs1060499649 |
PheGenI | rs1060499649 |
Biobank | rs1060499649 |
1000 genomes | rs1060499649 |
hgdp | rs1060499649 |
ensembl | rs1060499649 |
geneview | rs1060499649 |
scholar | rs1060499649 |
rs1060499649 | |
pharmgkb | rs1060499649 |
gwascentral | rs1060499649 |
openSNP | rs1060499649 |
23andMe | rs1060499649 |
SNPshot | rs1060499649 |
SNPdbe | rs1060499649 |
MSV3d | rs1060499649 |
GWAS Ctlg | rs1060499649 |
Max Magnitude | 0 |
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, |