rs41507451
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs41507451(A;A) |
| Make rs41507451(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173594 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41507451 |
| dbSNP (classic) | rs41507451 |
| ClinGen | rs41507451 |
| ebi | rs41507451 |
| HLI | rs41507451 |
| Exac | rs41507451 |
| Gnomad | rs41507451 |
| Varsome | rs41507451 |
| LitVar | rs41507451 |
| Map | rs41507451 |
| PheGenI | rs41507451 |
| Biobank | rs41507451 |
| 1000 genomes | rs41507451 |
| hgdp | rs41507451 |
| ensembl | rs41507451 |
| geneview | rs41507451 |
| scholar | rs41507451 |
| rs41507451 | |
| pharmgkb | rs41507451 |
| gwascentral | rs41507451 |
| openSNP | rs41507451 |
| 23andMe | rs41507451 |
| SNPshot | rs41507451 |
| SNPdbe | rs41507451 |
| MSV3d | rs41507451 |
| GWAS Ctlg | rs41507451 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41507451(A;A) |
| Alt | rs41507451(A;A) |
| Reference | Rs41507451(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN NATAL |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN NATAL |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223593C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016944.1, |
[PMID 3191134] Hb natal or alpha 2(minus Tyr-Arg) beta 2: a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC----TAA (Tyr----terminating codon) mutation in codon alpha 140.
