rs115998465
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs115998465(C;G) |
| Make rs115998465(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 43203237 |
| Gene | EPB42 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs115998465 |
| dbSNP (classic) | rs115998465 |
| ClinGen | rs115998465 |
| ebi | rs115998465 |
| HLI | rs115998465 |
| Exac | rs115998465 |
| Gnomad | rs115998465 |
| Varsome | rs115998465 |
| LitVar | rs115998465 |
| Map | rs115998465 |
| PheGenI | rs115998465 |
| Biobank | rs115998465 |
| 1000 genomes | rs115998465 |
| hgdp | rs115998465 |
| ensembl | rs115998465 |
| geneview | rs115998465 |
| scholar | rs115998465 |
| rs115998465 | |
| pharmgkb | rs115998465 |
| gwascentral | rs115998465 |
| openSNP | rs115998465 |
| 23andMe | rs115998465 |
| SNPshot | rs115998465 |
| SNPdbe | rs115998465 |
| MSV3d | rs115998465 |
| GWAS Ctlg | rs115998465 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs115998465(A;A) rs115998465(G;G) |
| Alt | rs115998465(A;A) rs115998465(G;G) |
| Reference | Rs115998465(C;C) |
| Significance | Pathogenic |
| Disease | Spherocytosis type 5 |
| Variation | info |
| Gene | EPB42 |
| CLNDBN | Spherocytosis type 5 |
| Reversed | 0 |
| HGVS | NC_000015.9:g.43495435C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014142.24, |
[PMID 12176912] Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.
