rs376003468
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common genotype |
(G;G) | 0 | common in clinvar |
Make rs376003468(G;T) |
Make rs376003468(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 128481849 |
Gene | GATA2 |
is a | snp |
is | mentioned by |
dbSNP | rs376003468 |
dbSNP (classic) | rs376003468 |
ClinGen | rs376003468 |
ebi | rs376003468 |
HLI | rs376003468 |
Exac | rs376003468 |
Gnomad | rs376003468 |
Varsome | rs376003468 |
LitVar | rs376003468 |
Map | rs376003468 |
PheGenI | rs376003468 |
Biobank | rs376003468 |
1000 genomes | rs376003468 |
hgdp | rs376003468 |
ensembl | rs376003468 |
geneview | rs376003468 |
scholar | rs376003468 |
rs376003468 | |
pharmgkb | rs376003468 |
gwascentral | rs376003468 |
openSNP | rs376003468 |
23andMe | rs376003468 |
SNPshot | rs376003468 |
SNPdbe | rs376003468 |
MSV3d | rs376003468 |
GWAS Ctlg | rs376003468 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs376003468(A;A) rs376003468(T;T) |
Alt | Rs376003468(A;A) rs376003468(T;T) |
Reference | Rs376003468(G;G) |
Significance | Probable-Pathogenic |
Disease | Dendritic cell Lymphedema |
Variation | info |
Gene | GATA2 |
CLNDBN | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Lymphedema, primary, with myelodysplasia |
Reversed | 0 |
HGVS | NC_000003.11:g.128200692G>T |
CLNSRC | |
CLNACC | RCV000197751.1, |