rs397514767
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 7 | inherited CD59 deficiency |
| (A;G) | 4 | unaffected carrier of an inherited CD59 deficiency allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 33710247 |
| Gene | CD59 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514767 |
| dbSNP (classic) | rs397514767 |
| ClinGen | rs397514767 |
| ebi | rs397514767 |
| HLI | rs397514767 |
| Exac | rs397514767 |
| Gnomad | rs397514767 |
| Varsome | rs397514767 |
| LitVar | rs397514767 |
| Map | rs397514767 |
| PheGenI | rs397514767 |
| Biobank | rs397514767 |
| 1000 genomes | rs397514767 |
| hgdp | rs397514767 |
| ensembl | rs397514767 |
| geneview | rs397514767 |
| scholar | rs397514767 |
| rs397514767 | |
| pharmgkb | rs397514767 |
| gwascentral | rs397514767 |
| openSNP | rs397514767 |
| 23andMe | rs397514767 |
| SNPshot | rs397514767 |
| SNPdbe | rs397514767 |
| MSV3d | rs397514767 |
| GWAS Ctlg | rs397514767 |
| Max Magnitude | 7 |
rs397514767 is a SNP in the CD59 gene on chromosome 11; aka c.266G>A, p.Cys89Tyr or C89Y.
A G>A change, when present in two copies, leads to an inherited CD59 deficiency including hemolytic anemia and immune-mediated polyneuropathy.[PMID 23149847]
See also OMIM 107271.0002
| ClinVar | |
|---|---|
| Risk | Rs397514767(A;A) |
| Alt | Rs397514767(A;A) |
| Reference | Rs397514767(G;G) |
| Significance | Pathogenic |
| Disease | Cd59 deficiency |
| Variation | info |
| Gene | CD59 |
| CLNDBN | Cd59 deficiency |
| Reversed | 1 |
| HGVS | NC_000011.9:g.33731793C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000054836.29, |
