rs113994055
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs113994055(C;T) |
| Make rs113994055(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 184137974 |
| Gene | EIF2B5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113994055 |
| dbSNP (classic) | rs113994055 |
| ClinGen | rs113994055 |
| ebi | rs113994055 |
| HLI | rs113994055 |
| Exac | rs113994055 |
| Gnomad | rs113994055 |
| Varsome | rs113994055 |
| LitVar | rs113994055 |
| Map | rs113994055 |
| PheGenI | rs113994055 |
| Biobank | rs113994055 |
| 1000 genomes | rs113994055 |
| hgdp | rs113994055 |
| ensembl | rs113994055 |
| geneview | rs113994055 |
| scholar | rs113994055 |
| rs113994055 | |
| pharmgkb | rs113994055 |
| gwascentral | rs113994055 |
| openSNP | rs113994055 |
| 23andMe | rs113994055 |
| SNPshot | rs113994055 |
| SNPdbe | rs113994055 |
| MSV3d | rs113994055 |
| GWAS Ctlg | rs113994055 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs113994055(T;T) |
| Alt | rs113994055(T;T) |
| Reference | Rs113994055(C;C) |
| Significance | Pathogenic |
| Disease | Ovarioleukodystrophy |
| Variation | info |
| Gene | EIF2B5 |
| CLNDBN | Ovarioleukodystrophy |
| Reversed | 0 |
| HGVS | NC_000003.11:g.183855762C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006312.3, |
[PMID 12707859
] Ovarian failure related to eukaryotic initiation factor 2B mutations.
