rs769441127
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs769441127(-;-) |
Make rs769441127(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 44071175 |
Gene | G6PC3 |
is a | snp |
is | mentioned by |
dbSNP | rs769441127 |
dbSNP (classic) | rs769441127 |
ClinGen | rs769441127 |
ebi | rs769441127 |
HLI | rs769441127 |
Exac | rs769441127 |
Gnomad | rs769441127 |
Varsome | rs769441127 |
LitVar | rs769441127 |
Map | rs769441127 |
PheGenI | rs769441127 |
Biobank | rs769441127 |
1000 genomes | rs769441127 |
hgdp | rs769441127 |
ensembl | rs769441127 |
geneview | rs769441127 |
scholar | rs769441127 |
rs769441127 | |
pharmgkb | rs769441127 |
gwascentral | rs769441127 |
openSNP | rs769441127 |
23andMe | rs769441127 |
SNPshot | rs769441127 |
SNPdbe | rs769441127 |
MSV3d | rs769441127 |
GWAS Ctlg | rs769441127 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769441127(-;-) |
Alt | rs769441127(-;-) |
Reference | Rs769441127(C;C) |
Significance | Pathogenic |
Disease | Severe congenital neutropenia 4 |
Variation | info |
Gene | G6PC3 |
CLNDBN | Severe congenital neutropenia 4, autosomal recessive |
Reversed | 0 |
HGVS | NC_000017.10:g.42148543delC |
CLNSRC | |
CLNACC | RCV000192088.1, |