rs398124628
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124628(-;ACAGCCACCGCTGCAGCTGC) |
Make rs398124628(ACAGCCACCGCTGCAGCTGC;ACAGCCACCGCTGCAGCTGC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 48791282 |
Gene | GATA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124628 |
dbSNP (classic) | rs398124628 |
ClinGen | rs398124628 |
ebi | rs398124628 |
HLI | rs398124628 |
Exac | rs398124628 |
Gnomad | rs398124628 |
Varsome | rs398124628 |
LitVar | rs398124628 |
Map | rs398124628 |
PheGenI | rs398124628 |
Biobank | rs398124628 |
1000 genomes | rs398124628 |
hgdp | rs398124628 |
ensembl | rs398124628 |
geneview | rs398124628 |
scholar | rs398124628 |
rs398124628 | |
pharmgkb | rs398124628 |
gwascentral | rs398124628 |
openSNP | rs398124628 |
23andMe | rs398124628 |
SNPshot | rs398124628 |
SNPdbe | rs398124628 |
MSV3d | rs398124628 |
GWAS Ctlg | rs398124628 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124628(GCACAGCCACCGCTGCAGCT;GCACAGCCACCGCTGCAGCT) |
Alt | rs398124628(GCACAGCCACCGCTGCAGCT;GCACAGCCACCGCTGCAGCT) |
Reference | Rs398124628(-;-) |
Significance | Pathogenic |
Disease | Acute megakaryoblastic leukemia |
Variation | info |
Gene | GATA1 |
CLNDBN | Acute megakaryoblastic leukemia |
Reversed | 0 |
HGVS | NC_000023.10:g.48649670_48649689dup20 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011174.3, |