rs587781257
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6.8 | Retinoblastoma (predicted) |
(T;T) | 0 | common in clinvar |
Make rs587781257(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48456296 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587781257 |
dbSNP (classic) | rs587781257 |
ClinGen | rs587781257 |
ebi | rs587781257 |
HLI | rs587781257 |
Exac | rs587781257 |
Gnomad | rs587781257 |
Varsome | rs587781257 |
LitVar | rs587781257 |
Map | rs587781257 |
PheGenI | rs587781257 |
Biobank | rs587781257 |
1000 genomes | rs587781257 |
hgdp | rs587781257 |
ensembl | rs587781257 |
geneview | rs587781257 |
scholar | rs587781257 |
rs587781257 | |
pharmgkb | rs587781257 |
gwascentral | rs587781257 |
openSNP | rs587781257 |
23andMe | rs587781257 |
SNPshot | rs587781257 |
SNPdbe | rs587781257 |
MSV3d | rs587781257 |
GWAS Ctlg | rs587781257 |
Max Magnitude | 6.8 |
ClinVar | |
---|---|
Risk | rs587781257(-;-) |
Alt | rs587781257(-;-) |
Reference | Rs587781257(T;T) |
Significance | Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.49030432delT |
CLNSRC | |
CLNACC | RCV000128457.1, |