rs869320720
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGAA;AGAA) | 0 | common in clinvar |
Make rs869320720(-;-) |
Make rs869320720(-;AGAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 3234298 |
Gene | SLC4A11 |
is a | snp |
is | mentioned by |
dbSNP | rs869320720 |
dbSNP (classic) | rs869320720 |
ClinGen | rs869320720 |
ebi | rs869320720 |
HLI | rs869320720 |
Exac | rs869320720 |
Gnomad | rs869320720 |
Varsome | rs869320720 |
LitVar | rs869320720 |
Map | rs869320720 |
PheGenI | rs869320720 |
Biobank | rs869320720 |
1000 genomes | rs869320720 |
hgdp | rs869320720 |
ensembl | rs869320720 |
geneview | rs869320720 |
scholar | rs869320720 |
rs869320720 | |
pharmgkb | rs869320720 |
gwascentral | rs869320720 |
openSNP | rs869320720 |
23andMe | rs869320720 |
SNPshot | rs869320720 |
SNPdbe | rs869320720 |
MSV3d | rs869320720 |
GWAS Ctlg | rs869320720 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320720(-;-) |
Alt | rs869320720(-;-) |
Reference | Rs869320720(AGAA;AGAA) |
Significance | Pathogenic |
Disease | Corneal endothelial dystrophy |
Variation | info |
Gene | SLC4A11 |
CLNDBN | Corneal endothelial dystrophy |
Reversed | 1 |
HGVS | NC_000020.10:g.3214944_3214947delTTCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001371.3, |