rs398124627
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124627(-;TACT) |
Make rs398124627(TACT;TACT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 48791296 |
Gene | GATA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124627 |
dbSNP (classic) | rs398124627 |
ClinGen | rs398124627 |
ebi | rs398124627 |
HLI | rs398124627 |
Exac | rs398124627 |
Gnomad | rs398124627 |
Varsome | rs398124627 |
LitVar | rs398124627 |
Map | rs398124627 |
PheGenI | rs398124627 |
Biobank | rs398124627 |
1000 genomes | rs398124627 |
hgdp | rs398124627 |
ensembl | rs398124627 |
geneview | rs398124627 |
scholar | rs398124627 |
rs398124627 | |
pharmgkb | rs398124627 |
gwascentral | rs398124627 |
openSNP | rs398124627 |
23andMe | rs398124627 |
SNPshot | rs398124627 |
SNPdbe | rs398124627 |
MSV3d | rs398124627 |
GWAS Ctlg | rs398124627 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124627(TACT;TACT) |
Alt | rs398124627(TACT;TACT) |
Reference | Rs398124627(-;-) |
Significance | Pathogenic |
Disease | Leukemia |
Variation | info |
Gene | GATA1 |
CLNDBN | Leukemia, megakaryoblastic, of Down syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.48649700_48649703dupTACT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011171.4, |