rs587781256
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAATTTTTTACTTTTAGTAAA;AAATTTTTTACTTTTAGTAAA) | 0 | common in clinvar |
Make rs587781256(-;-) |
Make rs587781256(-;ACTTTTAGTAAAAAATTTTTT) |
Make rs587781256(ACTTTTAGTAAAAAATTTTTT;ACTTTTAGTAAAAAATTTTTT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48380096 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587781256 |
dbSNP (classic) | rs587781256 |
ClinGen | rs587781256 |
ebi | rs587781256 |
HLI | rs587781256 |
Exac | rs587781256 |
Gnomad | rs587781256 |
Varsome | rs587781256 |
LitVar | rs587781256 |
Map | rs587781256 |
PheGenI | rs587781256 |
Biobank | rs587781256 |
1000 genomes | rs587781256 |
hgdp | rs587781256 |
ensembl | rs587781256 |
geneview | rs587781256 |
scholar | rs587781256 |
rs587781256 | |
pharmgkb | rs587781256 |
gwascentral | rs587781256 |
openSNP | rs587781256 |
23andMe | rs587781256 |
SNPshot | rs587781256 |
SNPdbe | rs587781256 |
MSV3d | rs587781256 |
GWAS Ctlg | rs587781256 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781256(-;-) |
Alt | rs587781256(-;-) |
Reference | Rs587781256(AAATTTTTTACTTTTAGTAAA;AAATTTTTTACTTTTAGTAAA) |
Significance | Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.48954232_48954252del21 |
CLNSRC | |
CLNACC | RCV000128456.1, |