rs80358286
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs80358286(A;G) |
Make rs80358286(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 86952287 |
Gene | FZD4, PRSS23 |
is a | snp |
is | mentioned by |
dbSNP | rs80358286 |
dbSNP (classic) | rs80358286 |
ClinGen | rs80358286 |
ebi | rs80358286 |
HLI | rs80358286 |
Exac | rs80358286 |
Gnomad | rs80358286 |
Varsome | rs80358286 |
LitVar | rs80358286 |
Map | rs80358286 |
PheGenI | rs80358286 |
Biobank | rs80358286 |
1000 genomes | rs80358286 |
hgdp | rs80358286 |
ensembl | rs80358286 |
geneview | rs80358286 |
scholar | rs80358286 |
rs80358286 | |
pharmgkb | rs80358286 |
gwascentral | rs80358286 |
openSNP | rs80358286 |
23andMe | rs80358286 |
SNPshot | rs80358286 |
SNPdbe | rs80358286 |
MSV3d | rs80358286 |
GWAS Ctlg | rs80358286 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358286(G;G) |
Alt | rs80358286(G;G) |
Reference | Rs80358286(A;A) |
Significance | Pathogenic |
Disease | Familial exudative vitreoretinopathy |
Variation | info |
Gene | FZD4 |
CLNDBN | Familial exudative vitreoretinopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.86663329T>C |
CLNSRC | |
CLNACC |
[PMID 15035989] Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
[PMID 15223780] Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.