rs1060503087
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060503087(G;T) |
Make rs1060503087(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 48379651 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503087 |
dbSNP (classic) | rs1060503087 |
ClinGen | rs1060503087 |
ebi | rs1060503087 |
HLI | rs1060503087 |
Exac | rs1060503087 |
Gnomad | rs1060503087 |
Varsome | rs1060503087 |
LitVar | rs1060503087 |
Map | rs1060503087 |
PheGenI | rs1060503087 |
Biobank | rs1060503087 |
1000 genomes | rs1060503087 |
hgdp | rs1060503087 |
ensembl | rs1060503087 |
geneview | rs1060503087 |
scholar | rs1060503087 |
rs1060503087 | |
pharmgkb | rs1060503087 |
gwascentral | rs1060503087 |
openSNP | rs1060503087 |
23andMe | rs1060503087 |
SNPshot | rs1060503087 |
SNPdbe | rs1060503087 |
MSV3d | rs1060503087 |
GWAS Ctlg | rs1060503087 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060503087(T;T) |
Alt | rs1060503087(T;T) |
Reference | Rs1060503087(G;G) |
Significance | Probable-Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.48953787G>T |
CLNSRC | |
CLNACC | RCV000462245.1, |