rs267607066
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 4 | Corneal dystrophy, fuchs endothelial, 4 |
Make rs267607066(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 3228687 |
Gene | SLC4A11 |
is a | snp |
is | mentioned by |
dbSNP | rs267607066 |
dbSNP (classic) | rs267607066 |
ClinGen | rs267607066 |
ebi | rs267607066 |
HLI | rs267607066 |
Exac | rs267607066 |
Gnomad | rs267607066 |
Varsome | rs267607066 |
LitVar | rs267607066 |
Map | rs267607066 |
PheGenI | rs267607066 |
Biobank | rs267607066 |
1000 genomes | rs267607066 |
hgdp | rs267607066 |
ensembl | rs267607066 |
geneview | rs267607066 |
scholar | rs267607066 |
rs267607066 | |
pharmgkb | rs267607066 |
gwascentral | rs267607066 |
openSNP | rs267607066 |
23andMe | rs267607066 |
SNPshot | rs267607066 |
SNPdbe | rs267607066 |
MSV3d | rs267607066 |
GWAS Ctlg | rs267607066 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | rs267607066(T;T) |
Alt | rs267607066(T;T) |
Reference | Rs267607066(C;C) |
Significance | Pathogenic |
Disease | Corneal dystrophy |
Variation | info |
Gene | SLC4A11 |
CLNDBN | Corneal dystrophy, Fuchs endothelial, 4 |
Reversed | 1 |
HGVS | NC_000020.10:g.3209333G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001384.3, |