rs483352689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs483352689(G;G) |
Make rs483352689(G;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 48459721 |
Gene | RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs483352689 |
dbSNP (classic) | rs483352689 |
ClinGen | rs483352689 |
ebi | rs483352689 |
HLI | rs483352689 |
Exac | rs483352689 |
Gnomad | rs483352689 |
Varsome | rs483352689 |
LitVar | rs483352689 |
Map | rs483352689 |
PheGenI | rs483352689 |
Biobank | rs483352689 |
1000 genomes | rs483352689 |
hgdp | rs483352689 |
ensembl | rs483352689 |
geneview | rs483352689 |
scholar | rs483352689 |
rs483352689 | |
pharmgkb | rs483352689 |
gwascentral | rs483352689 |
openSNP | rs483352689 |
23andMe | rs483352689 |
SNPshot | rs483352689 |
SNPdbe | rs483352689 |
MSV3d | rs483352689 |
GWAS Ctlg | rs483352689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352689(G;G) |
Alt | rs483352689(G;G) |
Reference | Rs483352689(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | RB1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.49033857T>G |
CLNSRC | |
CLNACC | RCV000087167.2, |