rs193922121
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs193922121(-;T) |
| Make rs193922121(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 153906344 |
| Gene | AVPR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922121 |
| dbSNP (classic) | rs193922121 |
| ClinGen | rs193922121 |
| ebi | rs193922121 |
| HLI | rs193922121 |
| Exac | rs193922121 |
| Gnomad | rs193922121 |
| Varsome | rs193922121 |
| LitVar | rs193922121 |
| Map | rs193922121 |
| PheGenI | rs193922121 |
| Biobank | rs193922121 |
| 1000 genomes | rs193922121 |
| hgdp | rs193922121 |
| ensembl | rs193922121 |
| geneview | rs193922121 |
| scholar | rs193922121 |
| rs193922121 | |
| pharmgkb | rs193922121 |
| gwascentral | rs193922121 |
| openSNP | rs193922121 |
| 23andMe | rs193922121 |
| SNPshot | rs193922121 |
| SNPdbe | rs193922121 |
| MSV3d | rs193922121 |
| GWAS Ctlg | rs193922121 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922121(T;T) |
| Alt | rs193922121(T;T) |
| Reference | Rs193922121(-;-) |
| Significance | Pathogenic |
| Disease | Nephrogenic diabetes insipidus |
| Variation | info |
| Gene | AVPR2 |
| CLNDBN | Nephrogenic diabetes insipidus |
| Reversed | 0 |
| HGVS | NC_000023.10:g.153171798dupT |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029398.1, |
[PMID 9773787] Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
[PMID 10820168] Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
[PMID 18726898] AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
