rs587776789
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.8 | Retinoblastoma (predicted) |
(G;G) | 0 | common in clinvar |
(G;T) | 6.8 | Retinoblastoma (predicted) |
Make rs587776789(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 48349024 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776789 |
dbSNP (classic) | rs587776789 |
ClinGen | rs587776789 |
ebi | rs587776789 |
HLI | rs587776789 |
Exac | rs587776789 |
Gnomad | rs587776789 |
Varsome | rs587776789 |
LitVar | rs587776789 |
Map | rs587776789 |
PheGenI | rs587776789 |
Biobank | rs587776789 |
1000 genomes | rs587776789 |
hgdp | rs587776789 |
ensembl | rs587776789 |
geneview | rs587776789 |
scholar | rs587776789 |
rs587776789 | |
pharmgkb | rs587776789 |
gwascentral | rs587776789 |
openSNP | rs587776789 |
23andMe | rs587776789 |
SNPshot | rs587776789 |
SNPdbe | rs587776789 |
MSV3d | rs587776789 |
GWAS Ctlg | rs587776789 |
Max Magnitude | 6.8 |
ClinVar | |
---|---|
Risk | rs587776789(A;A) rs587776789(T;T) |
Alt | rs587776789(A;A) rs587776789(T;T) |
Reference | Rs587776789(G;G) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | not provided Hereditary cancer-predisposing syndrome Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.48923160G>A; NC_000013.10:g.48923160G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000483814.1, RCV000492670.1, RCV000013969.2, RCV000415422.1, RCV000484757.1, RCV000492204.1, |