rs80358300
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80358300(C;T) |
Make rs80358300(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 86951266 |
Gene | FZD4, PRSS23 |
is a | snp |
is | mentioned by |
dbSNP | rs80358300 |
dbSNP (classic) | rs80358300 |
ClinGen | rs80358300 |
ebi | rs80358300 |
HLI | rs80358300 |
Exac | rs80358300 |
Gnomad | rs80358300 |
Varsome | rs80358300 |
LitVar | rs80358300 |
Map | rs80358300 |
PheGenI | rs80358300 |
Biobank | rs80358300 |
1000 genomes | rs80358300 |
hgdp | rs80358300 |
ensembl | rs80358300 |
geneview | rs80358300 |
scholar | rs80358300 |
rs80358300 | |
pharmgkb | rs80358300 |
gwascentral | rs80358300 |
openSNP | rs80358300 |
23andMe | rs80358300 |
SNPshot | rs80358300 |
SNPdbe | rs80358300 |
MSV3d | rs80358300 |
GWAS Ctlg | rs80358300 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358300(T;T) |
Alt | rs80358300(T;T) |
Reference | Rs80358300(C;C) |
Significance | Pathogenic |
Disease | Familial exudative vitreoretinopathy |
Variation | info |
Gene | FZD4 |
CLNDBN | Familial exudative vitreoretinopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.86662308G>A |
CLNSRC | |
CLNACC |
[PMID 15223780] Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.