rs28939717
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs28939717(A;G) |
| Make rs28939717(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 184136687 |
| Gene | EIF2B5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28939717 |
| dbSNP (classic) | rs28939717 |
| ClinGen | rs28939717 |
| ebi | rs28939717 |
| HLI | rs28939717 |
| Exac | rs28939717 |
| Gnomad | rs28939717 |
| Varsome | rs28939717 |
| LitVar | rs28939717 |
| Map | rs28939717 |
| PheGenI | rs28939717 |
| Biobank | rs28939717 |
| 1000 genomes | rs28939717 |
| hgdp | rs28939717 |
| ensembl | rs28939717 |
| geneview | rs28939717 |
| scholar | rs28939717 |
| rs28939717 | |
| pharmgkb | rs28939717 |
| gwascentral | rs28939717 |
| openSNP | rs28939717 |
| 23andMe | rs28939717 |
| SNPshot | rs28939717 |
| SNPdbe | rs28939717 |
| MSV3d | rs28939717 |
| GWAS Ctlg | rs28939717 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28939717(G;G) |
| Alt | rs28939717(G;G) |
| Reference | Rs28939717(A;A) |
| Significance | Pathogenic |
| Disease | Leukoencephalopathy with vanishing white matter not provided |
| Variation | info |
| Gene | EIF2B5 |
| CLNDBN | Leukoencephalopathy with vanishing white matter not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.183854475A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006305.4, RCV000255738.1, |
[PMID 11704758] Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
