rs796065031
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAGCT;AAGCT) | 0 | common in clinvar |
Make rs796065031(-;-) |
Make rs796065031(-;AAGCT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 183563437 |
Gene | NCF2 |
is a | snp |
is | mentioned by |
dbSNP | rs796065031 |
dbSNP (classic) | rs796065031 |
ClinGen | rs796065031 |
ebi | rs796065031 |
HLI | rs796065031 |
Exac | rs796065031 |
Gnomad | rs796065031 |
Varsome | rs796065031 |
LitVar | rs796065031 |
Map | rs796065031 |
PheGenI | rs796065031 |
Biobank | rs796065031 |
1000 genomes | rs796065031 |
hgdp | rs796065031 |
ensembl | rs796065031 |
geneview | rs796065031 |
scholar | rs796065031 |
rs796065031 | |
pharmgkb | rs796065031 |
gwascentral | rs796065031 |
openSNP | rs796065031 |
23andMe | rs796065031 |
SNPshot | rs796065031 |
SNPdbe | rs796065031 |
MSV3d | rs796065031 |
GWAS Ctlg | rs796065031 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065031(-;-) |
Alt | rs796065031(-;-) |
Reference | Rs796065031(AAGCT;AAGCT) |
Significance | Pathogenic |
Disease | Chronic granulomatous disease |
Variation | info |
Gene | NCF2 |
CLNDBN | Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.183532572_183532576delAGCTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002330.3, |