rs34667595
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in complete genomics |
| Make rs34667595(-;GAA) |
| Make rs34667595(GAA;GAA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176947 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34667595 |
| dbSNP (classic) | rs34667595 |
| ClinGen | rs34667595 |
| ebi | rs34667595 |
| HLI | rs34667595 |
| Exac | rs34667595 |
| Gnomad | rs34667595 |
| Varsome | rs34667595 |
| LitVar | rs34667595 |
| Map | rs34667595 |
| PheGenI | rs34667595 |
| Biobank | rs34667595 |
| 1000 genomes | rs34667595 |
| hgdp | rs34667595 |
| ensembl | rs34667595 |
| geneview | rs34667595 |
| scholar | rs34667595 |
| rs34667595 | |
| pharmgkb | rs34667595 |
| gwascentral | rs34667595 |
| openSNP | rs34667595 |
| 23andMe | rs34667595 |
| SNPshot | rs34667595 |
| SNPdbe | rs34667595 |
| MSV3d | rs34667595 |
| GWAS Ctlg | rs34667595 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34667595(GAA;GAA) |
| Alt | rs34667595(GAA;GAA) |
| Reference | Rs34667595(-;-) |
| Significance | Other |
| Disease | HEMOGLOBIN CATONSVILLE |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN CATONSVILLE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226946_226947insGAA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017002.2, |
[PMID 2574721] Hb Catonsville (glutamic acid inserted between Pro-37(C2)alpha and Thr-38(C3)alpha). Nonallelic gene conversion in the globin system?
