rs312262699
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs312262699(-;A) |
| Make rs312262699(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 56844040 |
| Gene | DGKE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs312262699 |
| dbSNP (classic) | rs312262699 |
| ClinGen | rs312262699 |
| ebi | rs312262699 |
| HLI | rs312262699 |
| Exac | rs312262699 |
| Gnomad | rs312262699 |
| Varsome | rs312262699 |
| LitVar | rs312262699 |
| Map | rs312262699 |
| PheGenI | rs312262699 |
| Biobank | rs312262699 |
| 1000 genomes | rs312262699 |
| hgdp | rs312262699 |
| ensembl | rs312262699 |
| geneview | rs312262699 |
| scholar | rs312262699 |
| rs312262699 | |
| pharmgkb | rs312262699 |
| gwascentral | rs312262699 |
| openSNP | rs312262699 |
| 23andMe | rs312262699 |
| SNPshot | rs312262699 |
| SNPdbe | rs312262699 |
| MSV3d | rs312262699 |
| GWAS Ctlg | rs312262699 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs312262699(A;A) |
| Alt | rs312262699(A;A) |
| Reference | Rs312262699(-;-) |
| 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.54921401dupA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000043568.5, RCV000122614.1, |
