rs80358322
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs80358322(G;G) |
Make rs80358322(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 68439918 |
Gene | LRP5 |
is a | snp |
is | mentioned by |
dbSNP | rs80358322 |
dbSNP (classic) | rs80358322 |
ClinGen | rs80358322 |
ebi | rs80358322 |
HLI | rs80358322 |
Exac | rs80358322 |
Gnomad | rs80358322 |
Varsome | rs80358322 |
LitVar | rs80358322 |
Map | rs80358322 |
PheGenI | rs80358322 |
Biobank | rs80358322 |
1000 genomes | rs80358322 |
hgdp | rs80358322 |
ensembl | rs80358322 |
geneview | rs80358322 |
scholar | rs80358322 |
rs80358322 | |
pharmgkb | rs80358322 |
gwascentral | rs80358322 |
openSNP | rs80358322 |
23andMe | rs80358322 |
SNPshot | rs80358322 |
SNPdbe | rs80358322 |
MSV3d | rs80358322 |
GWAS Ctlg | rs80358322 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358322(G;G) |
Alt | rs80358322(G;G) |
Reference | Rs80358322(T;T) |
Significance | Pathogenic |
Disease | Exudative vitreoretinopathy 4 not provided |
Variation | info |
Gene | LRP5 |
CLNDBN | Exudative vitreoretinopathy 4, autosomal dominant not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.68207386T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006667.2, RCV000489366.1, |
[PMID 15024691] Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.