rs28936382
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs28936382(A;G) |
Make rs28936382(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 92476090 |
Gene | GFI1 |
is a | snp |
is | mentioned by |
dbSNP | rs28936382 |
dbSNP (classic) | rs28936382 |
ClinGen | rs28936382 |
ebi | rs28936382 |
HLI | rs28936382 |
Exac | rs28936382 |
Gnomad | rs28936382 |
Varsome | rs28936382 |
LitVar | rs28936382 |
Map | rs28936382 |
PheGenI | rs28936382 |
Biobank | rs28936382 |
1000 genomes | rs28936382 |
hgdp | rs28936382 |
ensembl | rs28936382 |
geneview | rs28936382 |
scholar | rs28936382 |
rs28936382 | |
pharmgkb | rs28936382 |
gwascentral | rs28936382 |
openSNP | rs28936382 |
23andMe | rs28936382 |
SNPshot | rs28936382 |
SNPdbe | rs28936382 |
MSV3d | rs28936382 |
GWAS Ctlg | rs28936382 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28936382(G;G) |
Alt | rs28936382(G;G) |
Reference | Rs28936382(A;A) |
Significance | Pathogenic |
Disease | Neutropenia |
Variation | info |
Gene | GFI1 |
CLNDBN | Neutropenia, nonimmune chronic idiopathic, of adults |
Reversed | 1 |
HGVS | NC_000001.10:g.92941647T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009279.2, |