rs147972030
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs147972030(-;-) |
| Make rs147972030(-;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 56844164 |
| Gene | DGKE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147972030 |
| dbSNP (classic) | rs147972030 |
| ClinGen | rs147972030 |
| ebi | rs147972030 |
| HLI | rs147972030 |
| Exac | rs147972030 |
| Gnomad | rs147972030 |
| Varsome | rs147972030 |
| LitVar | rs147972030 |
| Map | rs147972030 |
| PheGenI | rs147972030 |
| Biobank | rs147972030 |
| 1000 genomes | rs147972030 |
| hgdp | rs147972030 |
| ensembl | rs147972030 |
| geneview | rs147972030 |
| scholar | rs147972030 |
| rs147972030 | |
| pharmgkb | rs147972030 |
| gwascentral | rs147972030 |
| openSNP | rs147972030 |
| 23andMe | rs147972030 |
| SNPshot | rs147972030 |
| SNPdbe | rs147972030 |
| MSV3d | rs147972030 |
| GWAS Ctlg | rs147972030 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs147972030(-;-) |
| Alt | rs147972030(-;-) |
| Reference | Rs147972030(A;A) |
| Significance | Pathogenic |
| Disease | Nephrotic syndrome |
| Variation | info |
| Gene | DGKE |
| CLNDBN | Nephrotic syndrome, type 7 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.54921525delA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000032779.4, |
