rs33939620
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (G;T) | 3 | Alpha-thalassemia allele carrier |
| Make rs33939620(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176786 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33939620 |
| dbSNP (classic) | rs33939620 |
| ClinGen | rs33939620 |
| ebi | rs33939620 |
| HLI | rs33939620 |
| Exac | rs33939620 |
| Gnomad | rs33939620 |
| Varsome | rs33939620 |
| LitVar | rs33939620 |
| Map | rs33939620 |
| PheGenI | rs33939620 |
| Biobank | rs33939620 |
| 1000 genomes | rs33939620 |
| hgdp | rs33939620 |
| ensembl | rs33939620 |
| geneview | rs33939620 |
| scholar | rs33939620 |
| rs33939620 | |
| pharmgkb | rs33939620 |
| gwascentral | rs33939620 |
| openSNP | rs33939620 |
| 23andMe | rs33939620 |
| SNPshot | rs33939620 |
| SNPdbe | rs33939620 |
| MSV3d | rs33939620 |
| GWAS Ctlg | rs33939620 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs33939620(A;A) rs33939620(C;C) rs33939620(T;T) |
| Alt | rs33939620(A;A) rs33939620(C;C) rs33939620(T;T) |
| Reference | Rs33939620(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN CHAD HEMOGLOBIN MEMPHIS |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN CHAD HEMOGLOBIN MEMPHIS |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226785G>A; NC_000016.9:g.226785G>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017003.2, RCV000017108.2, |
[PMID 4743350] A third case of hemoglobin Memphis-sickle cell disease. Whole blood viscosity used as a screening test.
[PMID 5972350] Characterization of alpha23GluNH2 in hemoglobin Memphis. Hemoglobin Memphis/S, a new variant of molecular disease.
[PMID 2606723] Hb Chad or alpha 223(B4)Glu----Lys beta 2 observed in members of a Surinam family in association with alpha-thalassemia-2 and with Hb S.
[PMID 4786652] Haemoglobin Chad, alpha23 GLU leads to LYS, in a Chinese family in Taiwan.
[PMID 5714528
] A survey of hemoglobins in the Republic of Chad and characterization of hemoglobin Chad:alpha-2-23Glu--Lys-beta-2.
[PMID 15481894] A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family.
