rs34991152
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs34991152(C;C) |
| Make rs34991152(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5234429 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34991152 |
| dbSNP (classic) | rs34991152 |
| ClinGen | rs34991152 |
| ebi | rs34991152 |
| HLI | rs34991152 |
| Exac | rs34991152 |
| Gnomad | rs34991152 |
| Varsome | rs34991152 |
| LitVar | rs34991152 |
| Map | rs34991152 |
| PheGenI | rs34991152 |
| Biobank | rs34991152 |
| 1000 genomes | rs34991152 |
| hgdp | rs34991152 |
| ensembl | rs34991152 |
| geneview | rs34991152 |
| scholar | rs34991152 |
| rs34991152 | |
| pharmgkb | rs34991152 |
| gwascentral | rs34991152 |
| openSNP | rs34991152 |
| 23andMe | rs34991152 |
| SNPshot | rs34991152 |
| SNPdbe | rs34991152 |
| MSV3d | rs34991152 |
| GWAS Ctlg | rs34991152 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34991152(C;C) |
| Alt | rs34991152(C;C) |
| Reference | Rs34991152(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) NIIGATA |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) NIIGATA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5255659A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016220.2, |
[PMID 1787103] Hb A2-Niigata [delta 1(NA1)Val----Ala]: a new delta chain variant found in the Japanese population.
