rs587776790
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776790(-;GCTGCCGCCGCGGAACCCCCGGC) |
Make rs587776790(GCTGCCGCCGCGGAACCCCCGGC;GCTGCCGCCGCGGAACCCCCGGC) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 48303977 |
Gene | LINC00441, RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776790 |
dbSNP (classic) | rs587776790 |
ClinGen | rs587776790 |
ebi | rs587776790 |
HLI | rs587776790 |
Exac | rs587776790 |
Gnomad | rs587776790 |
Varsome | rs587776790 |
LitVar | rs587776790 |
Map | rs587776790 |
PheGenI | rs587776790 |
Biobank | rs587776790 |
1000 genomes | rs587776790 |
hgdp | rs587776790 |
ensembl | rs587776790 |
geneview | rs587776790 |
scholar | rs587776790 |
rs587776790 | |
pharmgkb | rs587776790 |
gwascentral | rs587776790 |
openSNP | rs587776790 |
23andMe | rs587776790 |
SNPshot | rs587776790 |
SNPdbe | rs587776790 |
MSV3d | rs587776790 |
GWAS Ctlg | rs587776790 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776790(CGCTGCCGCCGCGGAACCCCCGG;CGCTGCCGCCGCGGAACCCCCGG) |
Alt | rs587776790(CGCTGCCGCCGCGGAACCCCCGG;CGCTGCCGCCGCGGAACCCCCGG) |
Reference | Rs587776790(-;-) |
Significance | Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | LINC00441 RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.48878091_48878113dup23 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013971.2, |