rs879253750
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs879253750(A;T) |
Make rs879253750(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 36472141 |
Gene | CSF3R |
is a | snp |
is | mentioned by |
dbSNP | rs879253750 |
dbSNP (classic) | rs879253750 |
ClinGen | rs879253750 |
ebi | rs879253750 |
HLI | rs879253750 |
Exac | rs879253750 |
Gnomad | rs879253750 |
Varsome | rs879253750 |
LitVar | rs879253750 |
Map | rs879253750 |
PheGenI | rs879253750 |
Biobank | rs879253750 |
1000 genomes | rs879253750 |
hgdp | rs879253750 |
ensembl | rs879253750 |
geneview | rs879253750 |
scholar | rs879253750 |
rs879253750 | |
pharmgkb | rs879253750 |
gwascentral | rs879253750 |
openSNP | rs879253750 |
23andMe | rs879253750 |
SNPshot | rs879253750 |
SNPdbe | rs879253750 |
MSV3d | rs879253750 |
GWAS Ctlg | rs879253750 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253750(T;T) |
Alt | rs879253750(T;T) |
Reference | Rs879253750(A;A) |
Significance | Pathogenic |
Disease | Neutropenia |
Variation | info |
Gene | CSF3R |
CLNDBN | Neutropenia, severe congenital, 7, autosomal recessive |
Reversed | 1 |
HGVS | NC_000001.10:g.36937742T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234855.1, |