rs587778844
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6.8 | Retinoblastoma (predicted) |
(A;A) | 0 | common in clinvar |
Make rs587778844(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48367578 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587778844 |
dbSNP (classic) | rs587778844 |
ClinGen | rs587778844 |
ebi | rs587778844 |
HLI | rs587778844 |
Exac | rs587778844 |
Gnomad | rs587778844 |
Varsome | rs587778844 |
LitVar | rs587778844 |
Map | rs587778844 |
PheGenI | rs587778844 |
Biobank | rs587778844 |
1000 genomes | rs587778844 |
hgdp | rs587778844 |
ensembl | rs587778844 |
geneview | rs587778844 |
scholar | rs587778844 |
rs587778844 | |
pharmgkb | rs587778844 |
gwascentral | rs587778844 |
openSNP | rs587778844 |
23andMe | rs587778844 |
SNPshot | rs587778844 |
SNPdbe | rs587778844 |
MSV3d | rs587778844 |
GWAS Ctlg | rs587778844 |
Max Magnitude | 6.8 |
ClinVar | |
---|---|
Risk | rs587778844(-;-) |
Alt | rs587778844(-;-) |
Reference | Rs587778844(A;A) |
Significance | Pathogenic |
Disease | Retinoblastoma Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.48941714delA |
CLNSRC | |
CLNACC | RCV000114718.1, RCV000492203.1, |