rs869320735
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869320735(A;GC) |
Make rs869320735(GC;GC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 128486355 |
Gene | GATA2 |
is a | snp |
is | mentioned by |
dbSNP | rs869320735 |
dbSNP (classic) | rs869320735 |
ClinGen | rs869320735 |
ebi | rs869320735 |
HLI | rs869320735 |
Exac | rs869320735 |
Gnomad | rs869320735 |
Varsome | rs869320735 |
LitVar | rs869320735 |
Map | rs869320735 |
PheGenI | rs869320735 |
Biobank | rs869320735 |
1000 genomes | rs869320735 |
hgdp | rs869320735 |
ensembl | rs869320735 |
geneview | rs869320735 |
scholar | rs869320735 |
rs869320735 | |
pharmgkb | rs869320735 |
gwascentral | rs869320735 |
openSNP | rs869320735 |
23andMe | rs869320735 |
SNPshot | rs869320735 |
SNPdbe | rs869320735 |
MSV3d | rs869320735 |
GWAS Ctlg | rs869320735 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320735(GC;GC) |
Alt | rs869320735(GC;GC) |
Reference | Rs869320735(A;A) |
Significance | Pathogenic |
Disease | Dendritic cell |
Variation | info |
Gene | GATA2 |
CLNDBN | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.128205198delTinsGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022566.28, |