rs104894334
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs104894334(A;A) |
| Make rs104894334(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 49954233 |
| Gene | AQP2, LOC101927318 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894334 |
| dbSNP (classic) | rs104894334 |
| ClinGen | rs104894334 |
| ebi | rs104894334 |
| HLI | rs104894334 |
| Exac | rs104894334 |
| Gnomad | rs104894334 |
| Varsome | rs104894334 |
| LitVar | rs104894334 |
| Map | rs104894334 |
| PheGenI | rs104894334 |
| Biobank | rs104894334 |
| 1000 genomes | rs104894334 |
| hgdp | rs104894334 |
| ensembl | rs104894334 |
| geneview | rs104894334 |
| scholar | rs104894334 |
| rs104894334 | |
| pharmgkb | rs104894334 |
| gwascentral | rs104894334 |
| openSNP | rs104894334 |
| 23andMe | rs104894334 |
| SNPshot | rs104894334 |
| SNPdbe | rs104894334 |
| MSV3d | rs104894334 |
| GWAS Ctlg | rs104894334 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894334(A;A) |
| Alt | rs104894334(A;A) |
| Reference | Rs104894334(G;G) |
| Significance | Pathogenic |
| Disease | Diabetes insipidus Nephrogenic diabetes insipidus |
| Variation | info |
| Gene | AQP2 LOC101927318 |
| CLNDBN | Diabetes insipidus, nephrogenic, autosomal recessive Nephrogenic diabetes insipidus |
| Reversed | 0 |
| HGVS | NC_000012.11:g.50348016G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019410.25, RCV000029343.2, |
[PMID 9593782
] Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.
[PMID 10069656] Aquaporin-2 water channel mutations and nephrogenic diabetes insipidus: new variations on a theme.
[PMID 10574954] Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus.
[PMID 10770218] Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
