rs587776788
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACA;ACA) | 0 | common in clinvar |
Make rs587776788(-;-) |
Make rs587776788(-;ACA) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 48380182 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776788 |
dbSNP (classic) | rs587776788 |
ClinGen | rs587776788 |
ebi | rs587776788 |
HLI | rs587776788 |
Exac | rs587776788 |
Gnomad | rs587776788 |
Varsome | rs587776788 |
LitVar | rs587776788 |
Map | rs587776788 |
PheGenI | rs587776788 |
Biobank | rs587776788 |
1000 genomes | rs587776788 |
hgdp | rs587776788 |
ensembl | rs587776788 |
geneview | rs587776788 |
scholar | rs587776788 |
rs587776788 | |
pharmgkb | rs587776788 |
gwascentral | rs587776788 |
openSNP | rs587776788 |
23andMe | rs587776788 |
SNPshot | rs587776788 |
SNPdbe | rs587776788 |
MSV3d | rs587776788 |
GWAS Ctlg | rs587776788 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776788(-;-) |
Alt | rs587776788(-;-) |
Reference | Rs587776788(ACA;ACA) |
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.48954318_48954320delACA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013967.2, RCV000492635.1, |