rs28937596
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs28937596(C;C) |
| Make rs28937596(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 184144111 |
| Gene | EIF2B5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937596 |
| dbSNP (classic) | rs28937596 |
| ClinGen | rs28937596 |
| ebi | rs28937596 |
| HLI | rs28937596 |
| Exac | rs28937596 |
| Gnomad | rs28937596 |
| Varsome | rs28937596 |
| LitVar | rs28937596 |
| Map | rs28937596 |
| PheGenI | rs28937596 |
| Biobank | rs28937596 |
| 1000 genomes | rs28937596 |
| hgdp | rs28937596 |
| ensembl | rs28937596 |
| geneview | rs28937596 |
| scholar | rs28937596 |
| rs28937596 | |
| pharmgkb | rs28937596 |
| gwascentral | rs28937596 |
| openSNP | rs28937596 |
| 23andMe | rs28937596 |
| SNPshot | rs28937596 |
| SNPdbe | rs28937596 |
| MSV3d | rs28937596 |
| GWAS Ctlg | rs28937596 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28937596(C;C) |
| Alt | rs28937596(C;C) |
| Reference | Rs28937596(T;T) |
| Significance | Pathogenic |
| Disease | Leukoencephalopathy with vanishing white matter |
| Variation | info |
| Gene | EIF2B5 |
| CLNDBN | Leukoencephalopathy with vanishing white matter |
| Reversed | 0 |
| HGVS | NC_000003.11:g.183861899T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006306.3, |
[PMID 11704758] Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
