rs119103274
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs119103274(C;T) |
| Make rs119103274(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 183574605 |
| Gene | NCF2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119103274 |
| dbSNP (classic) | rs119103274 |
| ClinGen | rs119103274 |
| ebi | rs119103274 |
| HLI | rs119103274 |
| Exac | rs119103274 |
| Gnomad | rs119103274 |
| Varsome | rs119103274 |
| LitVar | rs119103274 |
| Map | rs119103274 |
| PheGenI | rs119103274 |
| Biobank | rs119103274 |
| 1000 genomes | rs119103274 |
| hgdp | rs119103274 |
| ensembl | rs119103274 |
| geneview | rs119103274 |
| scholar | rs119103274 |
| rs119103274 | |
| pharmgkb | rs119103274 |
| gwascentral | rs119103274 |
| openSNP | rs119103274 |
| 23andMe | rs119103274 |
| SNPshot | rs119103274 |
| SNPdbe | rs119103274 |
| MSV3d | rs119103274 |
| GWAS Ctlg | rs119103274 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119103274(T;T) |
| Alt | rs119103274(T;T) |
| Reference | Rs119103274(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.183543740G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000002334.4, |
[PMID 10598813] Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.
