rs111033604
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs111033604(C;C) |
| Make rs111033604(C;G) |
| Make rs111033604(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 172942 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033604 |
| dbSNP (classic) | rs111033604 |
| ClinGen | rs111033604 |
| ebi | rs111033604 |
| HLI | rs111033604 |
| Exac | rs111033604 |
| Gnomad | rs111033604 |
| Varsome | rs111033604 |
| LitVar | rs111033604 |
| Map | rs111033604 |
| PheGenI | rs111033604 |
| Biobank | rs111033604 |
| 1000 genomes | rs111033604 |
| hgdp | rs111033604 |
| ensembl | rs111033604 |
| geneview | rs111033604 |
| scholar | rs111033604 |
| rs111033604 | |
| pharmgkb | rs111033604 |
| gwascentral | rs111033604 |
| openSNP | rs111033604 |
| 23andMe | rs111033604 |
| SNPshot | rs111033604 |
| SNPdbe | rs111033604 |
| MSV3d | rs111033604 |
| GWAS Ctlg | rs111033604 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033604(G;G) |
| Alt | rs111033604(G;G) |
| Reference | rs111033604(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN PARK RIDGE |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN PARK RIDGE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.222941C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016936.1, |
[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)].
