rs387906629
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906629(C;T) |
Make rs387906629(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 128481270 |
Gene | GATA2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906629 |
dbSNP (classic) | rs387906629 |
ClinGen | rs387906629 |
ebi | rs387906629 |
HLI | rs387906629 |
Exac | rs387906629 |
Gnomad | rs387906629 |
Varsome | rs387906629 |
LitVar | rs387906629 |
Map | rs387906629 |
PheGenI | rs387906629 |
Biobank | rs387906629 |
1000 genomes | rs387906629 |
hgdp | rs387906629 |
ensembl | rs387906629 |
geneview | rs387906629 |
scholar | rs387906629 |
rs387906629 | |
pharmgkb | rs387906629 |
gwascentral | rs387906629 |
openSNP | rs387906629 |
23andMe | rs387906629 |
SNPshot | rs387906629 |
SNPdbe | rs387906629 |
MSV3d | rs387906629 |
GWAS Ctlg | rs387906629 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906629(T;T) |
Alt | rs387906629(T;T) |
Reference | Rs387906629(C;C) |
Significance | Pathogenic |
Disease | Dendritic cell Acute myeloid leukemia |
Variation | info |
Gene | GATA2 |
CLNDBN | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Acute myeloid leukemia |
Reversed | 1 |
HGVS | NC_000003.11:g.128200113G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022559.24, RCV000445214.1, |