rs34160180
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GTT;GTT) | 0 | common in complete genomics |
| (I;I) | 0 | common genotype |
| (TTG;TTG) | 0 | common in clinvar |
| Make rs34160180(-;-) |
| Make rs34160180(-;GTT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226950 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34160180 |
| dbSNP (classic) | rs34160180 |
| ClinGen | rs34160180 |
| ebi | rs34160180 |
| HLI | rs34160180 |
| Exac | rs34160180 |
| Gnomad | rs34160180 |
| Varsome | rs34160180 |
| LitVar | rs34160180 |
| Map | rs34160180 |
| PheGenI | rs34160180 |
| Biobank | rs34160180 |
| 1000 genomes | rs34160180 |
| hgdp | rs34160180 |
| ensembl | rs34160180 |
| geneview | rs34160180 |
| scholar | rs34160180 |
| rs34160180 | |
| pharmgkb | rs34160180 |
| gwascentral | rs34160180 |
| openSNP | rs34160180 |
| 23andMe | rs34160180 |
| SNPshot | rs34160180 |
| SNPdbe | rs34160180 |
| MSV3d | rs34160180 |
| GWAS Ctlg | rs34160180 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34160180(-;-) |
| Alt | rs34160180(-;-) |
| Reference | Rs34160180(TTG;TTG) |
| Significance | Pathogenic |
| Disease | Hemoglobinopathy |
| Variation | info |
| Gene | HBB |
| CLNDBN | Hemoglobinopathy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248180_5248182delAAC |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016337.3, |
[PMID 5919752] Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue.
