rs587778825
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TG;TG) | 0 | common in clinvar |
Make rs587778825(-;-) |
Make rs587778825(-;GT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48342639 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587778825 |
dbSNP (classic) | rs587778825 |
ClinGen | rs587778825 |
ebi | rs587778825 |
HLI | rs587778825 |
Exac | rs587778825 |
Gnomad | rs587778825 |
Varsome | rs587778825 |
LitVar | rs587778825 |
Map | rs587778825 |
PheGenI | rs587778825 |
Biobank | rs587778825 |
1000 genomes | rs587778825 |
hgdp | rs587778825 |
ensembl | rs587778825 |
geneview | rs587778825 |
scholar | rs587778825 |
rs587778825 | |
pharmgkb | rs587778825 |
gwascentral | rs587778825 |
openSNP | rs587778825 |
23andMe | rs587778825 |
SNPshot | rs587778825 |
SNPdbe | rs587778825 |
MSV3d | rs587778825 |
GWAS Ctlg | rs587778825 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587778825(-;-) Rs587778825(TG;TG) |
Alt | rs587778825(-;-) Rs587778825(TG;TG) |
Reference | Rs587778825(GT;GT) |
Significance | Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.48916775_48916776delGT |
CLNSRC | |
CLNACC | RCV000114701.2, |