rs587778842
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.8 | Retinoblastoma (predicted) |
Make rs587778842(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48362859 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587778842 |
dbSNP (classic) | rs587778842 |
ClinGen | rs587778842 |
ebi | rs587778842 |
HLI | rs587778842 |
Exac | rs587778842 |
Gnomad | rs587778842 |
Varsome | rs587778842 |
LitVar | rs587778842 |
Map | rs587778842 |
PheGenI | rs587778842 |
Biobank | rs587778842 |
1000 genomes | rs587778842 |
hgdp | rs587778842 |
ensembl | rs587778842 |
geneview | rs587778842 |
scholar | rs587778842 |
rs587778842 | |
pharmgkb | rs587778842 |
gwascentral | rs587778842 |
openSNP | rs587778842 |
23andMe | rs587778842 |
SNPshot | rs587778842 |
SNPdbe | rs587778842 |
MSV3d | rs587778842 |
GWAS Ctlg | rs587778842 |
Max Magnitude | 6.8 |
ClinVar | |
---|---|
Risk | rs587778842(T;T) |
Alt | rs587778842(T;T) |
Reference | Rs587778842(C;C) |
Significance | Pathogenic |
Disease | Retinoblastoma not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.48936995C>T |
CLNSRC | HGMD |
CLNACC | RCV000114712.2, RCV000153808.2, RCV000492345.1, |