rs7151526
From SNPedia
| SNP in 5'UTR of SERPINA1 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.1 | possible increased risk for ANCA associated vasculitis |
| (C;C) | 0 | normal |
| Make rs7151526(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94397299 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7151526 |
| dbSNP (classic) | rs7151526 |
| ClinGen | rs7151526 |
| ebi | rs7151526 |
| HLI | rs7151526 |
| Exac | rs7151526 |
| Gnomad | rs7151526 |
| Varsome | rs7151526 |
| LitVar | rs7151526 |
| Map | rs7151526 |
| PheGenI | rs7151526 |
| Biobank | rs7151526 |
| 1000 genomes | rs7151526 |
| hgdp | rs7151526 |
| ensembl | rs7151526 |
| geneview | rs7151526 |
| scholar | rs7151526 |
| rs7151526 | |
| pharmgkb | rs7151526 |
| gwascentral | rs7151526 |
| openSNP | rs7151526 |
| 23andMe | rs7151526 |
| SNPshot | rs7151526 |
| SNPdbe | rs7151526 |
| MSV3d | rs7151526 |
| GWAS Ctlg | rs7151526 |
| GMAF | 0.02112 |
| Max Magnitude | 1.1 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs7151526 is an SNP in the 5'UTR of the SERPINA1 (alpha-1-antritrypsin/AAT) gene, with potential effects on AAT activity. [PMID 23990791
]
A recent study showed a strong association of the rs7151526(A) allele with anca-associated vasculitides [PMID 25452756]
| GWAS snp | |
|---|---|
| PMID | [PMID 22808956]
|
| Trait | Antineutrophil cytoplasmic antibody-associated vasculitis |
| Title | Genetically distinct subsets within ANCA-associated vasculitis. |
| Risk Allele | A |
| P-val | 2E-9 |
| Odds Ratio | 1.69 [NR] |
| ClinVar | |
|---|---|
| Risk | Rs7151526(A;A) |
| Alt | Rs7151526(A;A) |
| Reference | Rs7151526(C;C) |
| Significance | Other |
| Disease | Possible: Alpha-1-antitrypsin deficiency, ANCA Vasculitis |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | Alpha-1-antitrypsin deficiency,ANCA Vasculitis |
| Reversed | 0 |
| HGVS | NC_000014.8:g.94863636C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | |
