rs33964317
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Alpha-thalassemia allele carrier |
| (T;T) | 0 | common in complete genomics |
| Make rs33964317(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176759 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33964317 |
| dbSNP (classic) | rs33964317 |
| ClinGen | rs33964317 |
| ebi | rs33964317 |
| HLI | rs33964317 |
| Exac | rs33964317 |
| Gnomad | rs33964317 |
| Varsome | rs33964317 |
| LitVar | rs33964317 |
| Map | rs33964317 |
| PheGenI | rs33964317 |
| Biobank | rs33964317 |
| 1000 genomes | rs33964317 |
| hgdp | rs33964317 |
| ensembl | rs33964317 |
| geneview | rs33964317 |
| scholar | rs33964317 |
| rs33964317 | |
| pharmgkb | rs33964317 |
| gwascentral | rs33964317 |
| openSNP | rs33964317 |
| 23andMe | rs33964317 |
| SNPshot | rs33964317 |
| SNPdbe | rs33964317 |
| MSV3d | rs33964317 |
| GWAS Ctlg | rs33964317 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs33964317(A;A) rs33964317(C;C) |
| Alt | rs33964317(A;A) rs33964317(C;C) |
| Reference | Rs33964317(T;T) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226758T>A; NC_000016.9:g.226758T>C |
| CLNSRC | |
| CLNACC | |
[PMID 6725558
] Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.
[PMID 6882779] Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2.
[PMID 15008259] A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.
