rs121908674
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908674(C;G) |
Make rs121908674(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 68410076 |
Gene | LRP5 |
is a | snp |
is | mentioned by |
dbSNP | rs121908674 |
dbSNP (classic) | rs121908674 |
ClinGen | rs121908674 |
ebi | rs121908674 |
HLI | rs121908674 |
Exac | rs121908674 |
Gnomad | rs121908674 |
Varsome | rs121908674 |
LitVar | rs121908674 |
Map | rs121908674 |
PheGenI | rs121908674 |
Biobank | rs121908674 |
1000 genomes | rs121908674 |
hgdp | rs121908674 |
ensembl | rs121908674 |
geneview | rs121908674 |
scholar | rs121908674 |
rs121908674 | |
pharmgkb | rs121908674 |
gwascentral | rs121908674 |
openSNP | rs121908674 |
23andMe | rs121908674 |
SNPshot | rs121908674 |
SNPdbe | rs121908674 |
MSV3d | rs121908674 |
GWAS Ctlg | rs121908674 |
Merged from | Rs28939708 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908674(G;G) |
Alt | rs121908674(G;G) |
Reference | Rs121908674(C;C) |
Significance | Pathogenic |
Disease | Exudative vitreoretinopathy 4 |
Variation | info |
Gene | LRP5 |
CLNDBN | Exudative vitreoretinopathy 4, autosomal recessive |
Reversed | 0 |
HGVS | NC_000011.9:g.68177544C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006670.2, |