rs33931314
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33931314(C;T) |
| Make rs33931314(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177120 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33931314 |
| dbSNP (classic) | rs33931314 |
| ClinGen | rs33931314 |
| ebi | rs33931314 |
| HLI | rs33931314 |
| Exac | rs33931314 |
| Gnomad | rs33931314 |
| Varsome | rs33931314 |
| LitVar | rs33931314 |
| Map | rs33931314 |
| PheGenI | rs33931314 |
| Biobank | rs33931314 |
| 1000 genomes | rs33931314 |
| hgdp | rs33931314 |
| ensembl | rs33931314 |
| geneview | rs33931314 |
| scholar | rs33931314 |
| rs33931314 | |
| pharmgkb | rs33931314 |
| gwascentral | rs33931314 |
| openSNP | rs33931314 |
| 23andMe | rs33931314 |
| SNPshot | rs33931314 |
| SNPdbe | rs33931314 |
| MSV3d | rs33931314 |
| GWAS Ctlg | rs33931314 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33931314(A;A) rs33931314(G;G) rs33931314(T;T) |
| Alt | rs33931314(A;A) rs33931314(G;G) rs33931314(T;T) |
| Reference | Rs33931314(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN ST. LUKE'S HEMOGLOBIN G (GEORGIA) |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN ST. LUKE'S HEMOGLOBIN G (GEORGIA) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227119C>G; NC_000016.9:g.227119C>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000017159.2, RCV000017025.2, |
[PMID 4854984] The oxygen affinity of haemoglobin St. Luke's.
[PMID 5081617] Hemoglobin St Luke's, or alpha 2 , 95 Arg (G2) beta 2 .
[PMID 6629829] Hb St. Luke's [alpha 95 (G2) Pro replaced by Arg] in Japan.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
[PMID 12403494] Three new variants of the alpha1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha44(CE2)Pro-->Ala (alpha1)]; Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha95(G2)Pro-->Gln (alpha1)]; and a second, unrelated, case of Hb Roubaix [alpha55(E4)Val-->Leu (alpha1)].
