rs764325655
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;G) | 3 | Carrier for an Alpha-1 Antitrypsin Deficiency variant |
| (D;D) | 0 | common genotype |
| Make rs764325655(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 14 |
| Position | 94378547 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs764325655 |
| dbSNP (classic) | rs764325655 |
| ClinGen | rs764325655 |
| ebi | rs764325655 |
| HLI | rs764325655 |
| Exac | rs764325655 |
| Gnomad | rs764325655 |
| Varsome | rs764325655 |
| LitVar | rs764325655 |
| Map | rs764325655 |
| PheGenI | rs764325655 |
| Biobank | rs764325655 |
| 1000 genomes | rs764325655 |
| hgdp | rs764325655 |
| ensembl | rs764325655 |
| geneview | rs764325655 |
| scholar | rs764325655 |
| rs764325655 | |
| pharmgkb | rs764325655 |
| gwascentral | rs764325655 |
| openSNP | rs764325655 |
| 23andMe | rs764325655 |
| SNPshot | rs764325655 |
| SNPdbe | rs764325655 |
| MSV3d | rs764325655 |
| GWAS Ctlg | rs764325655 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs764325655(G;G) |
| Alt | rs764325655(G;G) |
| Reference | Rs764325655(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Alpha-1-antitrypsin deficiency |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | Alpha-1-antitrypsin deficiency |
| Reversed | 0 |
| HGVS | NC_000014.8:g.94844885dupG |
| CLNSRC | |
| CLNACC | RCV000169195.1, |
