rs376886420
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.8 | Retinoblastoma (predicted) |
Make rs376886420(A;G) |
Make rs376886420(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 48453114 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs376886420 |
dbSNP (classic) | rs376886420 |
ClinGen | rs376886420 |
ebi | rs376886420 |
HLI | rs376886420 |
Exac | rs376886420 |
Gnomad | rs376886420 |
Varsome | rs376886420 |
LitVar | rs376886420 |
Map | rs376886420 |
PheGenI | rs376886420 |
Biobank | rs376886420 |
1000 genomes | rs376886420 |
hgdp | rs376886420 |
ensembl | rs376886420 |
geneview | rs376886420 |
scholar | rs376886420 |
rs376886420 | |
pharmgkb | rs376886420 |
gwascentral | rs376886420 |
openSNP | rs376886420 |
23andMe | rs376886420 |
SNPshot | rs376886420 |
SNPdbe | rs376886420 |
MSV3d | rs376886420 |
GWAS Ctlg | rs376886420 |
Max Magnitude | 6.8 |
ClinVar | |
---|---|
Risk | rs376886420(C;C) rs376886420(G;G) |
Alt | rs376886420(C;C) rs376886420(G;G) |
Reference | Rs376886420(A;A) |
Significance | Probable-Pathogenic |
Disease | Retinoblastoma |
Variation | info |
Gene | RB1 |
CLNDBN | Retinoblastoma |
Reversed | 0 |
HGVS | NC_000013.10:g.49027250A>C; NC_000013.10:g.49027250A>G |
CLNSRC | |
CLNACC | RCV000227413.1, RCV000238879.1, |