rs104894760
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104894760(C;T) |
| Make rs104894760(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 153905816 |
| Gene | AVPR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894760 |
| dbSNP (classic) | rs104894760 |
| ClinGen | rs104894760 |
| ebi | rs104894760 |
| HLI | rs104894760 |
| Exac | rs104894760 |
| Gnomad | rs104894760 |
| Varsome | rs104894760 |
| LitVar | rs104894760 |
| Map | rs104894760 |
| PheGenI | rs104894760 |
| Biobank | rs104894760 |
| 1000 genomes | rs104894760 |
| hgdp | rs104894760 |
| ensembl | rs104894760 |
| geneview | rs104894760 |
| scholar | rs104894760 |
| rs104894760 | |
| pharmgkb | rs104894760 |
| gwascentral | rs104894760 |
| openSNP | rs104894760 |
| 23andMe | rs104894760 |
| SNPshot | rs104894760 |
| SNPdbe | rs104894760 |
| MSV3d | rs104894760 |
| GWAS Ctlg | rs104894760 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894760(T;T) |
| Alt | rs104894760(T;T) |
| Reference | Rs104894760(C;C) |
| Significance | Pathogenic |
| Disease | Nephrogenic diabetes insipidus Nephrogenic diabetes insipidus |
| Variation | info |
| Gene | AVPR2 |
| CLNDBN | Nephrogenic diabetes insipidus, X-linked Nephrogenic diabetes insipidus |
| Reversed | 0 |
| HGVS | NC_000023.10:g.153171270C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011600.3, RCV000029388.2, |
[PMID 11232] Specific effects of chloride ion on epoxide hydrolysis. The pH-dependence of the rates and mechanisms for the hydrolysis of indene oxide.
[PMID 14709855] A case of a novel mutant vasopressin receptor-dependent nephrogenic diabetes insipidus with bilateral non-obstructive hydronephrosis in a middle aged man: differentiation from aquaporin-dependent nephrogenic diabetes insipidus by response of factor VII and von Willebrand factor to 1-diamino-8-arginine vasopressin administration.
[PMID 15249704] Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus.
[PMID 17020465] Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.
[PMID 18726898] AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
[PMID 19812297] Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.
