rs34684963
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs34684963(C;C) |
| Make rs34684963(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177108 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34684963 |
| dbSNP (classic) | rs34684963 |
| ClinGen | rs34684963 |
| ebi | rs34684963 |
| HLI | rs34684963 |
| Exac | rs34684963 |
| Gnomad | rs34684963 |
| Varsome | rs34684963 |
| LitVar | rs34684963 |
| Map | rs34684963 |
| PheGenI | rs34684963 |
| Biobank | rs34684963 |
| 1000 genomes | rs34684963 |
| hgdp | rs34684963 |
| ensembl | rs34684963 |
| geneview | rs34684963 |
| scholar | rs34684963 |
| rs34684963 | |
| pharmgkb | rs34684963 |
| gwascentral | rs34684963 |
| openSNP | rs34684963 |
| 23andMe | rs34684963 |
| SNPshot | rs34684963 |
| SNPdbe | rs34684963 |
| MSV3d | rs34684963 |
| GWAS Ctlg | rs34684963 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34684963(C;C) |
| Alt | rs34684963(C;C) |
| Reference | Rs34684963(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN PORT PHILLIP |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN PORT PHILLIP |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227107T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017143.2, |
[PMID 902765] Haemoglobin Port Phillip alpha91 (FG3) Leu replaced by Pro, a new unstable haemoglobin.
