rs41457746
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;G) | 3 | Alpha-thalassemia allele carrier |
| Make rs41457746(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173123 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41457746 |
| dbSNP (classic) | rs41457746 |
| ClinGen | rs41457746 |
| ebi | rs41457746 |
| HLI | rs41457746 |
| Exac | rs41457746 |
| Gnomad | rs41457746 |
| Varsome | rs41457746 |
| LitVar | rs41457746 |
| Map | rs41457746 |
| PheGenI | rs41457746 |
| Biobank | rs41457746 |
| 1000 genomes | rs41457746 |
| hgdp | rs41457746 |
| ensembl | rs41457746 |
| geneview | rs41457746 |
| scholar | rs41457746 |
| rs41457746 | |
| pharmgkb | rs41457746 |
| gwascentral | rs41457746 |
| openSNP | rs41457746 |
| 23andMe | rs41457746 |
| SNPshot | rs41457746 |
| SNPdbe | rs41457746 |
| MSV3d | rs41457746 |
| GWAS Ctlg | rs41457746 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs41457746(G;G) |
| Alt | rs41457746(G;G) |
| Reference | Rs41457746(A;A) |
| Significance | Pathogenic |
| Disease | Alpha plus thalassemia |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | Alpha plus thalassemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223122A>G |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016968.28, |
[PMID 8943885] An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families.
