rs119103276
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119103276(C;T) |
Make rs119103276(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 183577667 |
Gene | NCF2 |
is a | snp |
is | mentioned by |
dbSNP | rs119103276 |
dbSNP (classic) | rs119103276 |
ClinGen | rs119103276 |
ebi | rs119103276 |
HLI | rs119103276 |
Exac | rs119103276 |
Gnomad | rs119103276 |
Varsome | rs119103276 |
LitVar | rs119103276 |
Map | rs119103276 |
PheGenI | rs119103276 |
Biobank | rs119103276 |
1000 genomes | rs119103276 |
hgdp | rs119103276 |
ensembl | rs119103276 |
geneview | rs119103276 |
scholar | rs119103276 |
rs119103276 | |
pharmgkb | rs119103276 |
gwascentral | rs119103276 |
openSNP | rs119103276 |
23andMe | rs119103276 |
SNPshot | rs119103276 |
SNPdbe | rs119103276 |
MSV3d | rs119103276 |
GWAS Ctlg | rs119103276 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103276(G;G) rs119103276(T;T) |
Alt | rs119103276(G;G) rs119103276(T;T) |
Reference | Rs119103276(C;C) |
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.183546802G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002332.3, |