rs3092891
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.8 | Retinoblastoma (predicted) |
Make rs3092891(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 48379594 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs3092891 |
dbSNP (classic) | rs3092891 |
ClinGen | rs3092891 |
ebi | rs3092891 |
HLI | rs3092891 |
Exac | rs3092891 |
Gnomad | rs3092891 |
Varsome | rs3092891 |
LitVar | rs3092891 |
Map | rs3092891 |
PheGenI | rs3092891 |
Biobank | rs3092891 |
1000 genomes | rs3092891 |
hgdp | rs3092891 |
ensembl | rs3092891 |
geneview | rs3092891 |
scholar | rs3092891 |
rs3092891 | |
pharmgkb | rs3092891 |
gwascentral | rs3092891 |
openSNP | rs3092891 |
23andMe | rs3092891 |
SNPshot | rs3092891 |
SNPdbe | rs3092891 |
MSV3d | rs3092891 |
GWAS Ctlg | rs3092891 |
Max Magnitude | 6.8 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs3092891(T;T) |
Alt | rs3092891(T;T) |
Reference | Rs3092891(C;C) |
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.48953730C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013946.2, RCV000492544.1, |
[PMID 18852891] Distribution and effects of nonsense polymorphisms in human genes.