rs33977363
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33977363(A;A) |
| Make rs33977363(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177059 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33977363 |
| dbSNP (classic) | rs33977363 |
| ClinGen | rs33977363 |
| ebi | rs33977363 |
| HLI | rs33977363 |
| Exac | rs33977363 |
| Gnomad | rs33977363 |
| Varsome | rs33977363 |
| LitVar | rs33977363 |
| Map | rs33977363 |
| PheGenI | rs33977363 |
| Biobank | rs33977363 |
| 1000 genomes | rs33977363 |
| hgdp | rs33977363 |
| ensembl | rs33977363 |
| geneview | rs33977363 |
| scholar | rs33977363 |
| rs33977363 | |
| pharmgkb | rs33977363 |
| gwascentral | rs33977363 |
| openSNP | rs33977363 |
| 23andMe | rs33977363 |
| SNPshot | rs33977363 |
| SNPdbe | rs33977363 |
| MSV3d | rs33977363 |
| GWAS Ctlg | rs33977363 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33977363(A;A) rs33977363(C;C) rs33977363(T;T) |
| Alt | rs33977363(A;A) rs33977363(C;C) rs33977363(T;T) |
| Reference | Rs33977363(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN MATSUE-OKI HEMOGLOBIN Q (IRAN) HEMOGLOBIN WINNIPEG |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN MATSUE-OKI HEMOGLOBIN Q (IRAN) HEMOGLOBIN WINNIPEG |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227058G>A; NC_000016.9:g.227058G>C; NC_000016.9:g.227058G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017107.2, RCV000017145.2, RCV000017179.2, |
[PMID 508945] The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia.
[PMID 3754247] Some notes about Hb Q-India and Hb Q-Iran.
[PMID 5460202] Two haemoglobins Q, alpha-74 (EF3) and alpha-75 (EF4) aspartic acid to histidine.
[PMID 4728965] Hemoglobin Winnipeg: alpha2 75 Asp leads to Tyr beta2.
[PMID 6841125] Hb Winnipeg or alpha 2 75(EF4)Asp leads to Tyr beta 2 in a large Caucasian family living in Georgia, USA.
[PMID 640845] Hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black American.
[PMID 893135] Hemoglobin Matsue-Oki: alpha 75 (EF 4) aspartic acid leads to asparagine.
[PMID 6814490] Identification of hemoglobin G-Philadelphia (alpha 68 Asn replaced by Lys) and hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black infant.
