rs45562031
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs45562031(C;T) |
| Make rs45562031(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44261625 |
| Gene | SLC4A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45562031 |
| dbSNP (classic) | rs45562031 |
| ClinGen | rs45562031 |
| ebi | rs45562031 |
| HLI | rs45562031 |
| Exac | rs45562031 |
| Gnomad | rs45562031 |
| Varsome | rs45562031 |
| LitVar | rs45562031 |
| Map | rs45562031 |
| PheGenI | rs45562031 |
| Biobank | rs45562031 |
| 1000 genomes | rs45562031 |
| hgdp | rs45562031 |
| ensembl | rs45562031 |
| geneview | rs45562031 |
| scholar | rs45562031 |
| rs45562031 | |
| pharmgkb | rs45562031 |
| gwascentral | rs45562031 |
| openSNP | rs45562031 |
| 23andMe | rs45562031 |
| SNPshot | rs45562031 |
| SNPdbe | rs45562031 |
| MSV3d | rs45562031 |
| GWAS Ctlg | rs45562031 |
| GMAF | 0.007805 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs45562031(T;T) |
| Alt | rs45562031(T;T) |
| Reference | Rs45562031(C;C) |
| Significance | Pathogenic |
| Disease | Spherocytosis type 4 not specified Hemolytic anemia |
| Variation | info |
| Gene | SLC4A1 |
| CLNDBN | Spherocytosis type 4 not specified Hemolytic anemia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.42338993C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019333.28, RCV000247655.1, RCV000298897.1, |
