rs33991223
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33991223(A;T) |
| Make rs33991223(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177060 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33991223 |
| dbSNP (classic) | rs33991223 |
| ClinGen | rs33991223 |
| ebi | rs33991223 |
| HLI | rs33991223 |
| Exac | rs33991223 |
| Gnomad | rs33991223 |
| Varsome | rs33991223 |
| LitVar | rs33991223 |
| Map | rs33991223 |
| PheGenI | rs33991223 |
| Biobank | rs33991223 |
| 1000 genomes | rs33991223 |
| hgdp | rs33991223 |
| ensembl | rs33991223 |
| geneview | rs33991223 |
| scholar | rs33991223 |
| rs33991223 | |
| pharmgkb | rs33991223 |
| gwascentral | rs33991223 |
| openSNP | rs33991223 |
| 23andMe | rs33991223 |
| SNPshot | rs33991223 |
| SNPdbe | rs33991223 |
| MSV3d | rs33991223 |
| GWAS Ctlg | rs33991223 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33991223(C;C) rs33991223(G;G) |
| Alt | rs33991223(C;C) rs33991223(G;G) |
| Reference | Rs33991223(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN DUAN HEMOGLOBIN MIZUSHI |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN DUAN HEMOGLOBIN MIZUSHI |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227059A>C; NC_000016.9:g.227059A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017015.2, RCV000017116.2, |
[PMID 3384694] Hb Duan [alpha 75(EF4)Asp----Ala], Hb Westmead [alpha 122(H5)His----Gln], and alpha-thalassemia-2 (-4.2 Kb deletion) in a Chinese family.
[PMID 7275664] Hemoglobin Duan, alpha 75(EF4) Asp replaced by Ala, a new variant found in China.
[PMID 7390865] Hemoglobin Mizushi (alpha 75 [EF4]Asp leads to Gly): a new hemoglobin variant observed in a Japanese family.
