rs768767517
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs768767517(-;C) |
Make rs768767517(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 128485998 |
Gene | GATA2 |
is a | snp |
is | mentioned by |
dbSNP | rs768767517 |
dbSNP (classic) | rs768767517 |
ClinGen | rs768767517 |
ebi | rs768767517 |
HLI | rs768767517 |
Exac | rs768767517 |
Gnomad | rs768767517 |
Varsome | rs768767517 |
LitVar | rs768767517 |
Map | rs768767517 |
PheGenI | rs768767517 |
Biobank | rs768767517 |
1000 genomes | rs768767517 |
hgdp | rs768767517 |
ensembl | rs768767517 |
geneview | rs768767517 |
scholar | rs768767517 |
rs768767517 | |
pharmgkb | rs768767517 |
gwascentral | rs768767517 |
openSNP | rs768767517 |
23andMe | rs768767517 |
SNPshot | rs768767517 |
SNPdbe | rs768767517 |
MSV3d | rs768767517 |
GWAS Ctlg | rs768767517 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768767517(C;C) |
Alt | rs768767517(C;C) |
Reference | Rs768767517(-;-) |
Significance | Pathogenic |
Disease | Dendritic cell |
Variation | info |
Gene | GATA2 |
CLNDBN | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.128204842dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022567.24, |