rs587776455
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776455(G;T) |
Make rs587776455(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 48793916 |
Gene | GATA1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776455 |
dbSNP (classic) | rs587776455 |
ClinGen | rs587776455 |
ebi | rs587776455 |
HLI | rs587776455 |
Exac | rs587776455 |
Gnomad | rs587776455 |
Varsome | rs587776455 |
LitVar | rs587776455 |
Map | rs587776455 |
PheGenI | rs587776455 |
Biobank | rs587776455 |
1000 genomes | rs587776455 |
hgdp | rs587776455 |
ensembl | rs587776455 |
geneview | rs587776455 |
scholar | rs587776455 |
rs587776455 | |
pharmgkb | rs587776455 |
gwascentral | rs587776455 |
openSNP | rs587776455 |
23andMe | rs587776455 |
SNPshot | rs587776455 |
SNPdbe | rs587776455 |
MSV3d | rs587776455 |
GWAS Ctlg | rs587776455 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776455(T;T) |
Alt | rs587776455(T;T) |
Reference | Rs587776455(G;G) |
Significance | Pathogenic |
Disease | GATA-1-related thrombocytopenia with dyserythropoiesis |
Variation | info |
Gene | GATA1 |
CLNDBN | GATA-1-related thrombocytopenia with dyserythropoiesis |
Reversed | 0 |
HGVS | NC_000023.10:g.48652323G>T |
CLNSRC | ClinVar |
CLNACC | RCV000144260.2, |