rs185919705
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 4 | Corneal dystrophy, fuchs endothelial, 8 |
Make rs185919705(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 86674435 |
Gene | AGBL1 |
is a | snp |
is | mentioned by |
dbSNP | rs185919705 |
dbSNP (classic) | rs185919705 |
ClinGen | rs185919705 |
ebi | rs185919705 |
HLI | rs185919705 |
Exac | rs185919705 |
Gnomad | rs185919705 |
Varsome | rs185919705 |
LitVar | rs185919705 |
Map | rs185919705 |
PheGenI | rs185919705 |
Biobank | rs185919705 |
1000 genomes | rs185919705 |
hgdp | rs185919705 |
ensembl | rs185919705 |
geneview | rs185919705 |
scholar | rs185919705 |
rs185919705 | |
pharmgkb | rs185919705 |
gwascentral | rs185919705 |
openSNP | rs185919705 |
23andMe | rs185919705 |
SNPshot | rs185919705 |
SNPdbe | rs185919705 |
MSV3d | rs185919705 |
GWAS Ctlg | rs185919705 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | rs185919705(T;T) |
Alt | rs185919705(T;T) |
Reference | Rs185919705(C;C) |
Significance | Pathogenic |
Disease | Corneal dystrophy |
Variation | info |
Gene | AGBL1 |
CLNDBN | Corneal dystrophy, Fuchs endothelial, 8 |
Reversed | 0 |
HGVS | NC_000015.9:g.87217666C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074408.2, |