rs34389944
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34389944(A;A) |
| Make rs34389944(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5234357 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34389944 |
| dbSNP (classic) | rs34389944 |
| ClinGen | rs34389944 |
| ebi | rs34389944 |
| HLI | rs34389944 |
| Exac | rs34389944 |
| Gnomad | rs34389944 |
| Varsome | rs34389944 |
| LitVar | rs34389944 |
| Map | rs34389944 |
| PheGenI | rs34389944 |
| Biobank | rs34389944 |
| 1000 genomes | rs34389944 |
| hgdp | rs34389944 |
| ensembl | rs34389944 |
| geneview | rs34389944 |
| scholar | rs34389944 |
| rs34389944 | |
| pharmgkb | rs34389944 |
| gwascentral | rs34389944 |
| openSNP | rs34389944 |
| 23andMe | rs34389944 |
| SNPshot | rs34389944 |
| SNPdbe | rs34389944 |
| MSV3d | rs34389944 |
| GWAS Ctlg | rs34389944 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34389944(A;A) |
| Alt | rs34389944(A;A) |
| Reference | Rs34389944(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) YOKOSHIMA |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) YOKOSHIMA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5255587C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016205.1, |
[PMID 3841531] Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly----Asp, a new delta chain variant found in a Japanese family.
