rs41331747
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs41331747(A;T) |
| Make rs41331747(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173286 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41331747 |
| dbSNP (classic) | rs41331747 |
| ClinGen | rs41331747 |
| ebi | rs41331747 |
| HLI | rs41331747 |
| Exac | rs41331747 |
| Gnomad | rs41331747 |
| Varsome | rs41331747 |
| LitVar | rs41331747 |
| Map | rs41331747 |
| PheGenI | rs41331747 |
| Biobank | rs41331747 |
| 1000 genomes | rs41331747 |
| hgdp | rs41331747 |
| ensembl | rs41331747 |
| geneview | rs41331747 |
| scholar | rs41331747 |
| rs41331747 | |
| pharmgkb | rs41331747 |
| gwascentral | rs41331747 |
| openSNP | rs41331747 |
| 23andMe | rs41331747 |
| SNPshot | rs41331747 |
| SNPdbe | rs41331747 |
| MSV3d | rs41331747 |
| GWAS Ctlg | rs41331747 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41331747(G;G) rs41331747(T;T) |
| Alt | rs41331747(G;G) rs41331747(T;T) |
| Reference | Rs41331747(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN INKSTER |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN INKSTER |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223285A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016925.1, |
[PMID 4212045] Haemoglobin inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
