rs273585651
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs273585651(-;-) |
Make rs273585651(-;GT) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 74777269 |
Gene | NCF1 |
is a | snp |
is | mentioned by |
dbSNP | rs273585651 |
dbSNP (classic) | rs273585651 |
ClinGen | rs273585651 |
ebi | rs273585651 |
HLI | rs273585651 |
Exac | rs273585651 |
Gnomad | rs273585651 |
Varsome | rs273585651 |
LitVar | rs273585651 |
Map | rs273585651 |
PheGenI | rs273585651 |
Biobank | rs273585651 |
1000 genomes | rs273585651 |
hgdp | rs273585651 |
ensembl | rs273585651 |
geneview | rs273585651 |
scholar | rs273585651 |
rs273585651 | |
pharmgkb | rs273585651 |
gwascentral | rs273585651 |
openSNP | rs273585651 |
23andMe | rs273585651 |
SNPshot | rs273585651 |
SNPdbe | rs273585651 |
MSV3d | rs273585651 |
GWAS Ctlg | rs273585651 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs273585651(-;-) |
Alt | rs273585651(-;-) |
Reference | Rs273585651(GT;GT) |
Significance | Pathogenic |
Disease | Chronic granulomatous disease |
Variation | info |
Gene | NCF1 |
CLNDBN | Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 |
Reversed | 0 |
HGVS | NC_000007.13:g.74191615_74191616delGT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002337.4, |