rs80358319
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs80358319(-;-) |
Make rs80358319(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 68433642 |
Gene | LRP5 |
is a | snp |
is | mentioned by |
dbSNP | rs80358319 |
dbSNP (classic) | rs80358319 |
ClinGen | rs80358319 |
ebi | rs80358319 |
HLI | rs80358319 |
Exac | rs80358319 |
Gnomad | rs80358319 |
Varsome | rs80358319 |
LitVar | rs80358319 |
Map | rs80358319 |
PheGenI | rs80358319 |
Biobank | rs80358319 |
1000 genomes | rs80358319 |
hgdp | rs80358319 |
ensembl | rs80358319 |
geneview | rs80358319 |
scholar | rs80358319 |
rs80358319 | |
pharmgkb | rs80358319 |
gwascentral | rs80358319 |
openSNP | rs80358319 |
23andMe | rs80358319 |
SNPshot | rs80358319 |
SNPdbe | rs80358319 |
MSV3d | rs80358319 |
GWAS Ctlg | rs80358319 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80358319(A;A) |
Significance | Untested |
Disease | Retinopathy of prematurity |
Variation | info |
Gene | LRP5 |
CLNDBN | Retinopathy of prematurity |
Reversed | 0 |
HGVS | NC_000011.9:g.68201110delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000026006.1, SCV000026006.1, |
[PMID 11719191] LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.