rs36020563
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs36020563(A;A) |
| Make rs36020563(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225610 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36020563 |
| dbSNP (classic) | rs36020563 |
| ClinGen | rs36020563 |
| ebi | rs36020563 |
| HLI | rs36020563 |
| Exac | rs36020563 |
| Gnomad | rs36020563 |
| Varsome | rs36020563 |
| LitVar | rs36020563 |
| Map | rs36020563 |
| PheGenI | rs36020563 |
| Biobank | rs36020563 |
| 1000 genomes | rs36020563 |
| hgdp | rs36020563 |
| ensembl | rs36020563 |
| geneview | rs36020563 |
| scholar | rs36020563 |
| rs36020563 | |
| pharmgkb | rs36020563 |
| gwascentral | rs36020563 |
| openSNP | rs36020563 |
| 23andMe | rs36020563 |
| SNPshot | rs36020563 |
| SNPdbe | rs36020563 |
| MSV3d | rs36020563 |
| GWAS Ctlg | rs36020563 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs36020563(A;A) rs36020563(G;G) rs36020563(T;T) |
| Alt | rs36020563(A;A) rs36020563(G;G) rs36020563(T;T) |
| Reference | Rs36020563(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246840G>A |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029997.1, |
[PMID 4811903] Hemoglobin Little Rock (beta143 (H21) His leads to Gln). Effects of an amino acid substitution at the 2,3-diphosphoglycerate binding site.
