rs753021890
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs753021890(A;A) |
Make rs753021890(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 27168578 |
Gene | TEK |
is a | snp |
is | mentioned by |
dbSNP | rs753021890 |
dbSNP (classic) | rs753021890 |
ClinGen | rs753021890 |
ebi | rs753021890 |
HLI | rs753021890 |
Exac | rs753021890 |
Gnomad | rs753021890 |
Varsome | rs753021890 |
LitVar | rs753021890 |
Map | rs753021890 |
PheGenI | rs753021890 |
Biobank | rs753021890 |
1000 genomes | rs753021890 |
hgdp | rs753021890 |
ensembl | rs753021890 |
geneview | rs753021890 |
scholar | rs753021890 |
rs753021890 | |
pharmgkb | rs753021890 |
gwascentral | rs753021890 |
openSNP | rs753021890 |
23andMe | rs753021890 |
SNPshot | rs753021890 |
SNPdbe | rs753021890 |
MSV3d | rs753021890 |
GWAS Ctlg | rs753021890 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753021890(A;A) rs753021890(T;T) |
Alt | rs753021890(A;A) rs753021890(T;T) |
Reference | Rs753021890(G;G) |
Significance | Pathogenic |
Disease | Glaucoma 3 |
Variation | info |
Gene | TEK |
CLNDBN | Glaucoma 3, primary congenital, E |
Reversed | 0 |
HGVS | NC_000009.11:g.27168576G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415600.1, |