rs267606912
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267606912(A;T) |
Make rs267606912(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 183574509 |
Gene | NCF2 |
is a | snp |
is | mentioned by |
dbSNP | rs267606912 |
dbSNP (classic) | rs267606912 |
ClinGen | rs267606912 |
ebi | rs267606912 |
HLI | rs267606912 |
Exac | rs267606912 |
Gnomad | rs267606912 |
Varsome | rs267606912 |
LitVar | rs267606912 |
Map | rs267606912 |
PheGenI | rs267606912 |
Biobank | rs267606912 |
1000 genomes | rs267606912 |
hgdp | rs267606912 |
ensembl | rs267606912 |
geneview | rs267606912 |
scholar | rs267606912 |
rs267606912 | |
pharmgkb | rs267606912 |
gwascentral | rs267606912 |
openSNP | rs267606912 |
23andMe | rs267606912 |
SNPshot | rs267606912 |
SNPdbe | rs267606912 |
MSV3d | rs267606912 |
GWAS Ctlg | rs267606912 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606912(T;T) |
Alt | rs267606912(T;T) |
Reference | Rs267606912(A;A) |
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.183543644T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002328.2, |