rs138924661
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 7 | Nephrotic syndrome type 7 |
| (A;G) | 3.9 | Carrier of nephrotic syndrome mutation; possible effects? |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 56848773 |
| Gene | DGKE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138924661 |
| dbSNP (classic) | rs138924661 |
| ClinGen | rs138924661 |
| ebi | rs138924661 |
| HLI | rs138924661 |
| Exac | rs138924661 |
| Gnomad | rs138924661 |
| Varsome | rs138924661 |
| LitVar | rs138924661 |
| Map | rs138924661 |
| PheGenI | rs138924661 |
| Biobank | rs138924661 |
| 1000 genomes | rs138924661 |
| hgdp | rs138924661 |
| ensembl | rs138924661 |
| geneview | rs138924661 |
| scholar | rs138924661 |
| rs138924661 | |
| pharmgkb | rs138924661 |
| gwascentral | rs138924661 |
| openSNP | rs138924661 |
| 23andMe | rs138924661 |
| SNPshot | rs138924661 |
| SNPdbe | rs138924661 |
| MSV3d | rs138924661 |
| GWAS Ctlg | rs138924661 |
| Max Magnitude | 7 |
aka c.966G>A, p.Trp322Ter, W322X or W322*
ClinVar indicated "likely pathogenic" for atypical hemolytic uremic syndrome, also known as nephrotic syndrome type 7, listed in OMIM as a recessively inherited condition; in 10.1126/science.aal4043, this variant appears to have some effect even if inherited in only one copy (see paper for discussion).
| ClinVar | |
|---|---|
| Risk | Rs138924661(A;A) |
| Alt | Rs138924661(A;A) |
| Reference | Rs138924661(G;G) |
| Significance | Other |
| Disease | Hemolytic uremic syndrome Atypical hemolytic uremic syndrome |
| Variation | info |
| Gene | DGKE |
| CLNDBN | Hemolytic uremic syndrome, atypical, susceptibility to, 7 Atypical hemolytic uremic syndrome |
| Reversed | 0 |
| HGVS | NC_000017.10:g.54926134G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000043567.3, RCV000122617.1, |
