rs41529844
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 3 | Alpha-thalassemia allele carrier |
| (G;G) | 0 | common in complete genomics |
| Make rs41529844(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173562 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41529844 |
| dbSNP (classic) | rs41529844 |
| ClinGen | rs41529844 |
| ebi | rs41529844 |
| HLI | rs41529844 |
| Exac | rs41529844 |
| Gnomad | rs41529844 |
| Varsome | rs41529844 |
| LitVar | rs41529844 |
| Map | rs41529844 |
| PheGenI | rs41529844 |
| Biobank | rs41529844 |
| 1000 genomes | rs41529844 |
| hgdp | rs41529844 |
| ensembl | rs41529844 |
| geneview | rs41529844 |
| scholar | rs41529844 |
| rs41529844 | |
| pharmgkb | rs41529844 |
| gwascentral | rs41529844 |
| openSNP | rs41529844 |
| 23andMe | rs41529844 |
| SNPshot | rs41529844 |
| SNPdbe | rs41529844 |
| MSV3d | rs41529844 |
| GWAS Ctlg | rs41529844 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs41529844(C;C) |
| Alt | rs41529844(C;C) |
| Reference | Rs41529844(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN SUN PRAIRIE |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN SUN PRAIRIE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223561G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016926.2, |
[PMID 2079430] Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2, a new unstable variant occurring in low quantities.
[PMID 2079431] Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2; second observation in an Indian adult.
[PMID 8811313] Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies.
