rs1303
From SNPedia
| Pi-M M3 variant |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1303(G;G) |
| Make rs1303(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94378506 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1303 |
| dbSNP (classic) | rs1303 |
| ClinGen | rs1303 |
| ebi | rs1303 |
| HLI | rs1303 |
| Exac | rs1303 |
| Gnomad | rs1303 |
| Varsome | rs1303 |
| LitVar | rs1303 |
| Map | rs1303 |
| PheGenI | rs1303 |
| Biobank | rs1303 |
| 1000 genomes | rs1303 |
| hgdp | rs1303 |
| ensembl | rs1303 |
| geneview | rs1303 |
| scholar | rs1303 |
| rs1303 | |
| pharmgkb | rs1303 |
| gwascentral | rs1303 |
| openSNP | rs1303 |
| 23andMe | rs1303 |
| SNPshot | rs1303 |
| SNPdbe | rs1303 |
| MSV3d | rs1303 |
| GWAS Ctlg | rs1303 |
| GMAF | 0.2268 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21067581
] finds no association between rs1303 and pulmonary emphysema
[PMID 20558996] Pilot Study on Schizophrenia in Sardinia
| ClinVar | |
|---|---|
| Risk | rs1303(G;G) |
| Alt | rs1303(G;G) |
| Reference | Rs1303(T;T) |
| Significance | Other |
| Disease | PI M3 not specified Alpha-1-antitrypsin deficiency |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | PI M3 not specified Alpha-1-antitrypsin deficiency |
| Reversed | 0 |
| HGVS | NC_000014.8:g.94844843T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019558.2, RCV000155574.2, RCV000380179.1, |
[PMID 22426792] Serum levels and genotype distribution of alpha1-antitrypsin in the general population.
| GWAS snp | |
|---|---|
| PMID | [PMID 22916037]
|
| Trait | Metabolite levels |
| Title | Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. |
| Risk Allele | |
| P-val | 5E-48 |
| Odds Ratio | NR NR |
