rs34210688
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CTGCACTGTGACAAG;CTGCACTGTGACAAG) | 0 | |
| (TGCACTGTGACAAGC;TGCACTGTGACAAGC) | 0 | common in clinvar |
| Make rs34210688(-;-) |
| Make rs34210688(-;CTGCACTGTGACAAG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226604 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34210688 |
| dbSNP (classic) | rs34210688 |
| ClinGen | rs34210688 |
| ebi | rs34210688 |
| HLI | rs34210688 |
| Exac | rs34210688 |
| Gnomad | rs34210688 |
| Varsome | rs34210688 |
| LitVar | rs34210688 |
| Map | rs34210688 |
| PheGenI | rs34210688 |
| Biobank | rs34210688 |
| 1000 genomes | rs34210688 |
| hgdp | rs34210688 |
| ensembl | rs34210688 |
| geneview | rs34210688 |
| scholar | rs34210688 |
| rs34210688 | |
| pharmgkb | rs34210688 |
| gwascentral | rs34210688 |
| openSNP | rs34210688 |
| 23andMe | rs34210688 |
| SNPshot | rs34210688 |
| SNPdbe | rs34210688 |
| MSV3d | rs34210688 |
| GWAS Ctlg | rs34210688 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34210688(-;-) |
| Alt | rs34210688(-;-) |
| Reference | rs34210688(TGTGACAAGCTGCAC;TGTGACAAGCTGCAC) |
| Significance | Other |
| Disease | HEMOGLOBIN GUN HILL |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN GUN HILL |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247834_5247848delCTTGTCACAGTGCAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016365.2, |
[PMID 19375] Some properties of hemoglobin Gun Hill.
[PMID 5540175
] Synthesis of hemoglobin Gun Hill: increased synthesis of the heme-free beta-GH globin chain and subunit exchange with a free alpha-chain pool.
[PMID 5675976] Hemoglobin Gun Hill: an unstable protein associated with chronic hemolysis.
[PMID 6038175] Hemoglobin Gun Hill: deletion of five amino acid residues and impaired heme-globin binding.
