rs267607064
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 4 | Corneal dystrophy, fuchs endothelial, 4 |
(G;G) | 0 | common in clinvar |
Make rs267607064(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 3228952 |
Gene | SLC4A11 |
is a | snp |
is | mentioned by |
dbSNP | rs267607064 |
dbSNP (classic) | rs267607064 |
ClinGen | rs267607064 |
ebi | rs267607064 |
HLI | rs267607064 |
Exac | rs267607064 |
Gnomad | rs267607064 |
Varsome | rs267607064 |
LitVar | rs267607064 |
Map | rs267607064 |
PheGenI | rs267607064 |
Biobank | rs267607064 |
1000 genomes | rs267607064 |
hgdp | rs267607064 |
ensembl | rs267607064 |
geneview | rs267607064 |
scholar | rs267607064 |
rs267607064 | |
pharmgkb | rs267607064 |
gwascentral | rs267607064 |
openSNP | rs267607064 |
23andMe | rs267607064 |
SNPshot | rs267607064 |
SNPdbe | rs267607064 |
MSV3d | rs267607064 |
GWAS Ctlg | rs267607064 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | rs267607064(A;A) |
Alt | rs267607064(A;A) |
Reference | Rs267607064(G;G) |
Significance | Pathogenic |
Disease | Corneal dystrophy |
Variation | info |
Gene | SLC4A11 |
CLNDBN | Corneal dystrophy, Fuchs endothelial, 4 |
Reversed | 1 |
HGVS | NC_000020.10:g.3209598C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001383.3, |