rs80358289
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80358289(A;A) |
Make rs80358289(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 86952078 |
Gene | FZD4, PRSS23 |
is a | snp |
is | mentioned by |
dbSNP | rs80358289 |
dbSNP (classic) | rs80358289 |
ClinGen | rs80358289 |
ebi | rs80358289 |
HLI | rs80358289 |
Exac | rs80358289 |
Gnomad | rs80358289 |
Varsome | rs80358289 |
LitVar | rs80358289 |
Map | rs80358289 |
PheGenI | rs80358289 |
Biobank | rs80358289 |
1000 genomes | rs80358289 |
hgdp | rs80358289 |
ensembl | rs80358289 |
geneview | rs80358289 |
scholar | rs80358289 |
rs80358289 | |
pharmgkb | rs80358289 |
gwascentral | rs80358289 |
openSNP | rs80358289 |
23andMe | rs80358289 |
SNPshot | rs80358289 |
SNPdbe | rs80358289 |
MSV3d | rs80358289 |
GWAS Ctlg | rs80358289 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358289(A;A) |
Alt | rs80358289(A;A) |
Reference | Rs80358289(G;G) |
Significance | Pathogenic |
Disease | Familial exudative vitreoretinopathy |
Variation | info |
Gene | FZD4 |
CLNDBN | Familial exudative vitreoretinopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.86663120C>T |
CLNSRC | |
CLNACC |
[PMID 15346351] Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.