rs587778853
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs587778853(-;-) |
Make rs587778853(-;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48342638 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587778853 |
dbSNP (old) | rs587778853 |
ClinGen | rs587778853 |
ebi | rs587778853 |
HLI | rs587778853 |
Exac | rs587778853 |
Gnomad | rs587778853 |
Varsome | rs587778853 |
Map | rs587778853 |
PheGenI | rs587778853 |
Biobank | rs587778853 |
1000 genomes | rs587778853 |
hgdp | rs587778853 |
ensembl | rs587778853 |
gopubmed | rs587778853 |
geneview | rs587778853 |
scholar | rs587778853 |
rs587778853 | |
pharmgkb | rs587778853 |
gwascentral | rs587778853 |
openSNP | rs587778853 |
23andMe | rs587778853 |
23andMe all | rs587778853 |
SNPshot | rs587778853 |
SNPdbe | rs587778853 |
MSV3d | rs587778853 |
GWAS Ctlg | rs587778853 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs587778853(TG;TG) |
Significance | Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.48916775_48916776delGT |
CLNSRC | |
CLNACC | RCV000114701.2, |