rs467323
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs467323(A;A) |
| Make rs467323(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 49955982 |
| Gene | AQP2, LOC101927318 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs467323 |
| dbSNP (classic) | rs467323 |
| ClinGen | rs467323 |
| ebi | rs467323 |
| HLI | rs467323 |
| Exac | rs467323 |
| Gnomad | rs467323 |
| Varsome | rs467323 |
| LitVar | rs467323 |
| Map | rs467323 |
| PheGenI | rs467323 |
| Biobank | rs467323 |
| 1000 genomes | rs467323 |
| hgdp | rs467323 |
| ensembl | rs467323 |
| geneview | rs467323 |
| scholar | rs467323 |
| rs467323 | |
| pharmgkb | rs467323 |
| gwascentral | rs467323 |
| openSNP | rs467323 |
| 23andMe | rs467323 |
| SNPshot | rs467323 |
| SNPdbe | rs467323 |
| MSV3d | rs467323 |
| GWAS Ctlg | rs467323 |
| GMAF | 0.4325 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21793635] Influence of aquaporin-1 gene polymorphism on water retention in liver cirrhosis
| ClinVar | |
|---|---|
| Risk | rs467323(A;A) |
| Alt | rs467323(A;A) |
| Reference | Rs467323(G;G) |
| Significance | Non-pathogenic |
| Disease | Nephrogenic diabetes insipidus |
| Variation | info |
| Gene | LOC101927318 AQP2 |
| CLNDBN | Nephrogenic diabetes insipidus |
| Reversed | 1 |
| HGVS | NC_000012.11:g.50349765C>T |
| CLNSRC | |
| CLNACC | RCV000401240.1, |
