rs587776782
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.8 | Retinoblastoma (predicted) |
(G;G) | 0 | common in clinvar |
Make rs587776782(G;T) |
Make rs587776782(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48367604 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776782 |
dbSNP (classic) | rs587776782 |
ClinGen | rs587776782 |
ebi | rs587776782 |
HLI | rs587776782 |
Exac | rs587776782 |
Gnomad | rs587776782 |
Varsome | rs587776782 |
LitVar | rs587776782 |
Map | rs587776782 |
PheGenI | rs587776782 |
Biobank | rs587776782 |
1000 genomes | rs587776782 |
hgdp | rs587776782 |
ensembl | rs587776782 |
geneview | rs587776782 |
scholar | rs587776782 |
rs587776782 | |
pharmgkb | rs587776782 |
gwascentral | rs587776782 |
openSNP | rs587776782 |
23andMe | rs587776782 |
SNPshot | rs587776782 |
SNPdbe | rs587776782 |
MSV3d | rs587776782 |
GWAS Ctlg | rs587776782 |
Max Magnitude | 6.8 |
ClinVar | |
---|---|
Risk | rs587776782(A;A) rs587776782(T;T) |
Alt | rs587776782(A;A) rs587776782(T;T) |
Reference | Rs587776782(G;G) |
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.48941740G>A; NC_000013.10:g.48941740G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000114719.1, RCV000492362.1, RCV000013950.4, |