rs6533526
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs6533526(A;A) |
Make rs6533526(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 110617671 |
Gene | PITX2 |
is a | snp |
is | mentioned by |
dbSNP | rs6533526 |
dbSNP (classic) | rs6533526 |
ClinGen | rs6533526 |
ebi | rs6533526 |
HLI | rs6533526 |
Exac | rs6533526 |
Gnomad | rs6533526 |
Varsome | rs6533526 |
LitVar | rs6533526 |
Map | rs6533526 |
PheGenI | rs6533526 |
Biobank | rs6533526 |
1000 genomes | rs6533526 |
hgdp | rs6533526 |
ensembl | rs6533526 |
geneview | rs6533526 |
scholar | rs6533526 |
rs6533526 | |
pharmgkb | rs6533526 |
gwascentral | rs6533526 |
openSNP | rs6533526 |
23andMe | rs6533526 |
SNPshot | rs6533526 |
SNPdbe | rs6533526 |
MSV3d | rs6533526 |
GWAS Ctlg | rs6533526 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs6533526(A;A) |
Alt | rs6533526(A;A) |
Reference | Rs6533526(G;G) |
Significance | Pathogenic |
Disease | not provided Anterior segment mesenchymal dysgenesis Axenfeld-Rieger Syndrome PITX2-Related Eye Abnormalities Iridogoniodysgenesis Cataract Ring dermoid of cornea Peters anomaly |
Variation | info |
Gene | PITX2 |
CLNDBN | not provided Anterior segment mesenchymal dysgenesis Axenfeld-Rieger Syndrome PITX2-Related Eye Abnormalities Iridogoniodysgenesis, dominant type Cataract Ring dermoid of cornea Peters anomaly |
Reversed | 0 |
HGVS | NC_000004.11:g.111538827G>A |
CLNSRC | |
CLNACC | RCV000162087.1, RCV000290152.1, RCV000293383.1, RCV000347493.1, RCV000350621.1, RCV000382147.1, RCV000385721.1, RCV000392643.1, |