rs33991779
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33991779(G;T) |
| Make rs33991779(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177111 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33991779 |
| dbSNP (classic) | rs33991779 |
| ClinGen | rs33991779 |
| ebi | rs33991779 |
| HLI | rs33991779 |
| Exac | rs33991779 |
| Gnomad | rs33991779 |
| Varsome | rs33991779 |
| LitVar | rs33991779 |
| Map | rs33991779 |
| PheGenI | rs33991779 |
| Biobank | rs33991779 |
| 1000 genomes | rs33991779 |
| hgdp | rs33991779 |
| ensembl | rs33991779 |
| geneview | rs33991779 |
| scholar | rs33991779 |
| rs33991779 | |
| pharmgkb | rs33991779 |
| gwascentral | rs33991779 |
| openSNP | rs33991779 |
| 23andMe | rs33991779 |
| SNPshot | rs33991779 |
| SNPdbe | rs33991779 |
| MSV3d | rs33991779 |
| GWAS Ctlg | rs33991779 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33991779(A;A) rs33991779(C;C) rs33991779(T;T) |
| Alt | rs33991779(A;A) rs33991779(C;C) rs33991779(T;T) |
| Reference | Rs33991779(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN J (CAPE TOWN) HEMOGLOBIN CHESAPEAKE |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN J (CAPE TOWN) HEMOGLOBIN CHESAPEAKE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227110G>A; NC_000016.9:g.227110G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017062.3, RCV000017005.3, |
[PMID 729801] A Hb J Cape Town homozygote--association of Hb J Cape Town and alpha-thalassaemia.
[PMID 5090068
] Oxygen equilibrium of hemoglobin J Cape Town.
[PMID 5091982] Ligand binding in hemoglobin J Capetown.
[PMID 5416469] High resolution nuclear magnetic resonance studies of haemoglobin J Capetown.
[PMID 5988206] Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
[PMID 17486491] Hb J-Cape Town [alpha92(FG4)Arg-->Gln (alpha1), CGG-->CAG] in Southern Italy found in a patient with erythrocytosis.
[PMID 481959] The effect of hemoglobin F-Chesapeake (alpha 2 92 Arg. leads to Leu gamma 2) on fetal oxygen affinity and erythropoiesis.
[PMID 4436307] Allosteric transition and ligand binding in hemoglobin Chesapeake.
[PMID 4436327] Hemoglobin Chesapeake (92 alpha, arginine--leucine). Precise measurements and analyses of oxygen equilibrium.
[PMID 5157353] Three-dimensional structure of abnormal human haemoglobins Chesapeake and J Capetown.
[PMID 5913291] Polycythemia associated with a hemoglobinopathy.
[PMID 5967288] Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).
[PMID 6629827] Hb Chesapeake [alpha 92 (FG 4) Arg replaced by Leu] and Hb J Cape Town [alpha 92 (FG 4) Arg leads to Gln] first discovered in Japanese.
[PMID 11146582] A new case of hemoglobin Chesapeake.
