rs587776779
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776779(-;-) |
Make rs587776779(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48473391 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776779 |
dbSNP (classic) | rs587776779 |
ClinGen | rs587776779 |
ebi | rs587776779 |
HLI | rs587776779 |
Exac | rs587776779 |
Gnomad | rs587776779 |
Varsome | rs587776779 |
LitVar | rs587776779 |
Map | rs587776779 |
PheGenI | rs587776779 |
Biobank | rs587776779 |
1000 genomes | rs587776779 |
hgdp | rs587776779 |
ensembl | rs587776779 |
geneview | rs587776779 |
scholar | rs587776779 |
rs587776779 | |
pharmgkb | rs587776779 |
gwascentral | rs587776779 |
openSNP | rs587776779 |
23andMe | rs587776779 |
SNPshot | rs587776779 |
SNPdbe | rs587776779 |
MSV3d | rs587776779 |
GWAS Ctlg | rs587776779 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776779(-;-) |
Alt | rs587776779(-;-) |
Reference | Rs587776779(G;G) |
Significance | Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.49047527delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013944.4, |