rs199469638
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199469638(C;T) |
| Make rs199469638(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 137661950 |
| Gene | KLHL3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199469638 |
| dbSNP (classic) | rs199469638 |
| ClinGen | rs199469638 |
| ebi | rs199469638 |
| HLI | rs199469638 |
| Exac | rs199469638 |
| Gnomad | rs199469638 |
| Varsome | rs199469638 |
| LitVar | rs199469638 |
| Map | rs199469638 |
| PheGenI | rs199469638 |
| Biobank | rs199469638 |
| 1000 genomes | rs199469638 |
| hgdp | rs199469638 |
| ensembl | rs199469638 |
| geneview | rs199469638 |
| scholar | rs199469638 |
| rs199469638 | |
| pharmgkb | rs199469638 |
| gwascentral | rs199469638 |
| openSNP | rs199469638 |
| 23andMe | rs199469638 |
| SNPshot | rs199469638 |
| SNPdbe | rs199469638 |
| MSV3d | rs199469638 |
| GWAS Ctlg | rs199469638 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199469638(T;T) |
| Alt | rs199469638(T;T) |
| Reference | Rs199469638(C;C) |
| Significance | Pathogenic |
| Disease | Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism |
| Variation | info |
| Gene | KLHL3 |
| CLNDBN | Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism, type 2 |
| Reversed | 1 |
| HGVS | NC_000005.9:g.136997639G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023476.2, RCV000128514.1, |
