Rs104894514
From SNPedia
| Orientation | minus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894514 |
| PheGenI | rs104894514 |
| nextbio | rs104894514 |
| hapmap | rs104894514 |
| 1000 genomes | rs104894514 |
| hgdp | rs104894514 |
| ensembl | rs104894514 |
| gopubmed | rs104894514 |
| geneview | rs104894514 |
| scholar | rs104894514 |
| rs104894514 | |
| pharmgkb | rs104894514 |
| gwascentral | rs104894514 |
| openSNP | rs104894514 |
| 23andMe | rs104894514 |
| 23andMe all | rs104894514 |
| SNP Nexus | |
| SNPshot | rs104894514 |
| SNPdbe | rs104894514 |
| MSV3d | rs104894514 |
| Gene | CYBA |
| Chromosome | 16 |
| Orientation | minus |
| Position | 88712539 |
| Reference | GRCh37 37.1/132 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104894514(A;A) |
| Make rs104894514(A;C) |
| ClinVar | |
|---|---|
| Risk | rs104894514(A,T;A,T) |
| Normal | rs104894514(C;C) |
| Significance | 5 |
| Disease | Granulomatous disease |
| ClinVar | info |
| Gene | CYBA |
| CLNDBN | Granulomatous disease, chronic, autosomal recessive, cytochrome |
| Reversed | 1 |
| CLNHGVS | NC_000016.9:g.88712539G>A |
| CLNSRC | OMIM Allelic Variant |
[PMID 10910929] Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).
