rs63750073
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs63750073(C;T) |
| Make rs63750073(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173481 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750073 |
| dbSNP (classic) | rs63750073 |
| ClinGen | rs63750073 |
| ebi | rs63750073 |
| HLI | rs63750073 |
| Exac | rs63750073 |
| Gnomad | rs63750073 |
| Varsome | rs63750073 |
| LitVar | rs63750073 |
| Map | rs63750073 |
| PheGenI | rs63750073 |
| Biobank | rs63750073 |
| 1000 genomes | rs63750073 |
| hgdp | rs63750073 |
| ensembl | rs63750073 |
| geneview | rs63750073 |
| scholar | rs63750073 |
| rs63750073 | |
| pharmgkb | rs63750073 |
| gwascentral | rs63750073 |
| openSNP | rs63750073 |
| 23andMe | rs63750073 |
| SNPshot | rs63750073 |
| SNPdbe | rs63750073 |
| MSV3d | rs63750073 |
| GWAS Ctlg | rs63750073 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750073(T;T) |
| Alt | rs63750073(T;T) |
| Reference | Rs63750073(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN LOMBARD |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN LOMBARD |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223480C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016959.1, |
[PMID 12144061] Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)].
