rs111033601
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111033601(A;A) |
| Make rs111033601(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173236 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033601 |
| dbSNP (classic) | rs111033601 |
| ClinGen | rs111033601 |
| ebi | rs111033601 |
| HLI | rs111033601 |
| Exac | rs111033601 |
| Gnomad | rs111033601 |
| Varsome | rs111033601 |
| LitVar | rs111033601 |
| Map | rs111033601 |
| PheGenI | rs111033601 |
| Biobank | rs111033601 |
| 1000 genomes | rs111033601 |
| hgdp | rs111033601 |
| ensembl | rs111033601 |
| geneview | rs111033601 |
| scholar | rs111033601 |
| rs111033601 | |
| pharmgkb | rs111033601 |
| gwascentral | rs111033601 |
| openSNP | rs111033601 |
| 23andMe | rs111033601 |
| SNPshot | rs111033601 |
| SNPdbe | rs111033601 |
| MSV3d | rs111033601 |
| GWAS Ctlg | rs111033601 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033601(A;A) rs111033601(G;G) |
| Alt | rs111033601(A;A) rs111033601(G;G) |
| Reference | Rs111033601(C;C) |
| Significance | Pathogenic |
| Disease | Alpha Thalassemia |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | alpha Thalassemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223235C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000417221.1, |
[PMID 974034] Studies of the proporation and synthesis of haemoblogin C Philadelphia in red cells of heterozygotes, a homozygote, and a heterozygote for both haemoglobin G and alpha thalassaemia.
[PMID 4724958] Haemoglobin G Philadelphia, alpha68(alphaE17) Asn leads to Lys, in a Chinese subject in Taiwan.
[PMID 5969816] Chemical characterization of haemoglobin G-St-I.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
[PMID 8178806] Two different mutations in codon 68 are observed in Hb G-Philadelphia heterozygotes.
