rs796065032
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs796065032(A;A) |
Make rs796065032(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 183577598 |
Gene | NCF2 |
is a | snp |
is | mentioned by |
dbSNP | rs796065032 |
dbSNP (classic) | rs796065032 |
ClinGen | rs796065032 |
ebi | rs796065032 |
HLI | rs796065032 |
Exac | rs796065032 |
Gnomad | rs796065032 |
Varsome | rs796065032 |
LitVar | rs796065032 |
Map | rs796065032 |
PheGenI | rs796065032 |
Biobank | rs796065032 |
1000 genomes | rs796065032 |
hgdp | rs796065032 |
ensembl | rs796065032 |
geneview | rs796065032 |
scholar | rs796065032 |
rs796065032 | |
pharmgkb | rs796065032 |
gwascentral | rs796065032 |
openSNP | rs796065032 |
23andMe | rs796065032 |
SNPshot | rs796065032 |
SNPdbe | rs796065032 |
MSV3d | rs796065032 |
GWAS Ctlg | rs796065032 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065032(A;A) rs796065032(C;C) |
Alt | rs796065032(A;A) rs796065032(C;C) |
Reference | Rs796065032(G;G) |
Significance | Pathogenic |
Disease | not provided Chronic granulomatous disease |
Variation | info |
Gene | NCF2 |
CLNDBN | not provided Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 |
Reversed | 1 |
HGVS | NC_000001.10:g.183546733C>G; NC_000001.10:g.183546733C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412968.1, RCV000002331.3, |