rs181958589
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs181958589(C;C) |
Make rs181958589(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 86674322 |
Gene | AGBL1 |
is a | snp |
is | mentioned by |
dbSNP | rs181958589 |
dbSNP (classic) | rs181958589 |
ClinGen | rs181958589 |
ebi | rs181958589 |
HLI | rs181958589 |
Exac | rs181958589 |
Gnomad | rs181958589 |
Varsome | rs181958589 |
LitVar | rs181958589 |
Map | rs181958589 |
PheGenI | rs181958589 |
Biobank | rs181958589 |
1000 genomes | rs181958589 |
hgdp | rs181958589 |
ensembl | rs181958589 |
geneview | rs181958589 |
scholar | rs181958589 |
rs181958589 | |
pharmgkb | rs181958589 |
gwascentral | rs181958589 |
openSNP | rs181958589 |
23andMe | rs181958589 |
SNPshot | rs181958589 |
SNPdbe | rs181958589 |
MSV3d | rs181958589 |
GWAS Ctlg | rs181958589 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs181958589(C;C) |
Alt | rs181958589(C;C) |
Reference | Rs181958589(G;G) |
Significance | Pathogenic |
Disease | Corneal dystrophy |
Variation | info |
Gene | AGBL1 |
CLNDBN | Corneal dystrophy, Fuchs endothelial, 8 |
Reversed | 0 |
HGVS | NC_000015.9:g.87217553G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074409.2, |