rs398123332
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398123332(-;T) |
Make rs398123332(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 48381333 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123332 |
dbSNP (classic) | rs398123332 |
ClinGen | rs398123332 |
ebi | rs398123332 |
HLI | rs398123332 |
Exac | rs398123332 |
Gnomad | rs398123332 |
Varsome | rs398123332 |
LitVar | rs398123332 |
Map | rs398123332 |
PheGenI | rs398123332 |
Biobank | rs398123332 |
1000 genomes | rs398123332 |
hgdp | rs398123332 |
ensembl | rs398123332 |
geneview | rs398123332 |
scholar | rs398123332 |
rs398123332 | |
pharmgkb | rs398123332 |
gwascentral | rs398123332 |
openSNP | rs398123332 |
23andMe | rs398123332 |
SNPshot | rs398123332 |
SNPdbe | rs398123332 |
MSV3d | rs398123332 |
GWAS Ctlg | rs398123332 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123332(T;T) |
Alt | rs398123332(T;T) |
Reference | Rs398123332(-;-) |
Significance | Pathogenic |
Disease | not provided Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | not provided Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.48955469dupT |
CLNSRC | HGMD |
CLNACC | RCV000078634.3, RCV000175134.1, |