rs878853949
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.8 | Retinoblastoma (predicted) |
Make rs878853949(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 48459780 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853949 |
dbSNP (classic) | rs878853949 |
ClinGen | rs878853949 |
ebi | rs878853949 |
HLI | rs878853949 |
Exac | rs878853949 |
Gnomad | rs878853949 |
Varsome | rs878853949 |
LitVar | rs878853949 |
Map | rs878853949 |
PheGenI | rs878853949 |
Biobank | rs878853949 |
1000 genomes | rs878853949 |
hgdp | rs878853949 |
ensembl | rs878853949 |
geneview | rs878853949 |
scholar | rs878853949 |
rs878853949 | |
pharmgkb | rs878853949 |
gwascentral | rs878853949 |
openSNP | rs878853949 |
23andMe | rs878853949 |
SNPshot | rs878853949 |
SNPdbe | rs878853949 |
MSV3d | rs878853949 |
GWAS Ctlg | rs878853949 |
Max Magnitude | 6.8 |
ClinVar | |
---|---|
Risk | rs878853949(T;T) |
Alt | rs878853949(T;T) |
Reference | Rs878853949(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.49033916C>T |
CLNSRC | |
CLNACC | RCV000234228.1, RCV000492351.1, |