rs1060503077
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060503077(G;T) |
Make rs1060503077(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 48367521 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060503077 |
dbSNP (classic) | rs1060503077 |
ClinGen | rs1060503077 |
ebi | rs1060503077 |
HLI | rs1060503077 |
Exac | rs1060503077 |
Gnomad | rs1060503077 |
Varsome | rs1060503077 |
LitVar | rs1060503077 |
Map | rs1060503077 |
PheGenI | rs1060503077 |
Biobank | rs1060503077 |
1000 genomes | rs1060503077 |
hgdp | rs1060503077 |
ensembl | rs1060503077 |
geneview | rs1060503077 |
scholar | rs1060503077 |
rs1060503077 | |
pharmgkb | rs1060503077 |
gwascentral | rs1060503077 |
openSNP | rs1060503077 |
23andMe | rs1060503077 |
SNPshot | rs1060503077 |
SNPdbe | rs1060503077 |
MSV3d | rs1060503077 |
GWAS Ctlg | rs1060503077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060503077(T;T) |
Alt | rs1060503077(T;T) |
Reference | Rs1060503077(G;G) |
Significance | Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.48941657G>T |
CLNSRC | |
CLNACC | RCV000471380.1, |