rs137853296
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.8 | Retinoblastoma (predicted) |
(T;T) | 0 | common in clinvar |
Make rs137853296(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 48463758 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853296 |
dbSNP (classic) | rs137853296 |
ClinGen | rs137853296 |
ebi | rs137853296 |
HLI | rs137853296 |
Exac | rs137853296 |
Gnomad | rs137853296 |
Varsome | rs137853296 |
LitVar | rs137853296 |
Map | rs137853296 |
PheGenI | rs137853296 |
Biobank | rs137853296 |
1000 genomes | rs137853296 |
hgdp | rs137853296 |
ensembl | rs137853296 |
geneview | rs137853296 |
scholar | rs137853296 |
rs137853296 | |
pharmgkb | rs137853296 |
gwascentral | rs137853296 |
openSNP | rs137853296 |
23andMe | rs137853296 |
SNPshot | rs137853296 |
SNPdbe | rs137853296 |
MSV3d | rs137853296 |
GWAS Ctlg | rs137853296 |
Max Magnitude | 6.8 |
ClinVar | |
---|---|
Risk | rs137853296(C;C) |
Alt | rs137853296(C;C) |
Reference | Rs137853296(T;T) |
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.49037894T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013968.2, RCV000492516.1, |