rs121913296
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.8 | Retinoblastoma (predicted) |
Make rs121913296(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48345108 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs121913296 |
dbSNP (classic) | rs121913296 |
ClinGen | rs121913296 |
ebi | rs121913296 |
HLI | rs121913296 |
Exac | rs121913296 |
Gnomad | rs121913296 |
Varsome | rs121913296 |
LitVar | rs121913296 |
Map | rs121913296 |
PheGenI | rs121913296 |
Biobank | rs121913296 |
1000 genomes | rs121913296 |
hgdp | rs121913296 |
ensembl | rs121913296 |
geneview | rs121913296 |
scholar | rs121913296 |
rs121913296 | |
pharmgkb | rs121913296 |
gwascentral | rs121913296 |
openSNP | rs121913296 |
23andMe | rs121913296 |
SNPshot | rs121913296 |
SNPdbe | rs121913296 |
MSV3d | rs121913296 |
GWAS Ctlg | rs121913296 |
Max Magnitude | 6.8 |
ClinVar | |
---|---|
Risk | rs121913296(T;T) |
Alt | rs121913296(T;T) |
Reference | Rs121913296(G;G) |
Significance | Pathogenic |
Disease | Retinoblastoma Neoplasm |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma Neoplasm |
Reversed | 0 |
HGVS | NC_000013.10:g.48919244G>T |
CLNSRC | |
CLNACC | RCV000114702.1, RCV000427414.1, |