rs41321345
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;C) | 3 | Alpha-thalassemia allele carrier |
| Make rs41321345(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173599 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41321345 |
| dbSNP (classic) | rs41321345 |
| ClinGen | rs41321345 |
| ebi | rs41321345 |
| HLI | rs41321345 |
| Exac | rs41321345 |
| Gnomad | rs41321345 |
| Varsome | rs41321345 |
| LitVar | rs41321345 |
| Map | rs41321345 |
| PheGenI | rs41321345 |
| Biobank | rs41321345 |
| 1000 genomes | rs41321345 |
| hgdp | rs41321345 |
| ensembl | rs41321345 |
| geneview | rs41321345 |
| scholar | rs41321345 |
| rs41321345 | |
| pharmgkb | rs41321345 |
| gwascentral | rs41321345 |
| openSNP | rs41321345 |
| 23andMe | rs41321345 |
| SNPshot | rs41321345 |
| SNPdbe | rs41321345 |
| MSV3d | rs41321345 |
| GWAS Ctlg | rs41321345 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs41321345(C;C) |
| Alt | rs41321345(C;C) |
| Reference | Rs41321345(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN KOYA DORA |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN KOYA DORA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223598A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016894.1, |
[PMID 1155453
] Hemoglobin Koya Dora: high frequency of a chain termination mutant.
[PMID 1802886] Hemoglobinopathies among the Gond tribal groups of central India; interaction of alpha- and beta-thalassemia with beta chain variants.
[PMID 8251382] An IVS-I-117 (G-->A) acceptor splice site mutation in the alpha 1-globin gene is a nondeletional alpha-thalassaemia-2 determinant in an Indian population.
