rs104894425
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs104894425(A;G) |
| Make rs104894425(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 75005906 |
| Gene | EIF2B2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894425 |
| dbSNP (classic) | rs104894425 |
| ClinGen | rs104894425 |
| ebi | rs104894425 |
| HLI | rs104894425 |
| Exac | rs104894425 |
| Gnomad | rs104894425 |
| Varsome | rs104894425 |
| LitVar | rs104894425 |
| Map | rs104894425 |
| PheGenI | rs104894425 |
| Biobank | rs104894425 |
| 1000 genomes | rs104894425 |
| hgdp | rs104894425 |
| ensembl | rs104894425 |
| geneview | rs104894425 |
| scholar | rs104894425 |
| rs104894425 | |
| pharmgkb | rs104894425 |
| gwascentral | rs104894425 |
| openSNP | rs104894425 |
| 23andMe | rs104894425 |
| SNPshot | rs104894425 |
| SNPdbe | rs104894425 |
| MSV3d | rs104894425 |
| GWAS Ctlg | rs104894425 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894425(G;G) |
| Alt | rs104894425(G;G) |
| Reference | Rs104894425(A;A) |
| Significance | Pathogenic |
| Disease | Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy |
| Variation | info |
| Gene | EIF2B2 |
| CLNDBN | Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy |
| Reversed | 0 |
| HGVS | NC_000014.8:g.75472609A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004583.3, RCV000004584.3, |
[PMID 11704758] Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
[PMID 12707859
] Ovarian failure related to eukaryotic initiation factor 2B mutations.
[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
