rs34049764
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs34049764(C;T) |
| Make rs34049764(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225693 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34049764 |
| dbSNP (classic) | rs34049764 |
| ClinGen | rs34049764 |
| ebi | rs34049764 |
| HLI | rs34049764 |
| Exac | rs34049764 |
| Gnomad | rs34049764 |
| Varsome | rs34049764 |
| LitVar | rs34049764 |
| Map | rs34049764 |
| PheGenI | rs34049764 |
| Biobank | rs34049764 |
| 1000 genomes | rs34049764 |
| hgdp | rs34049764 |
| ensembl | rs34049764 |
| geneview | rs34049764 |
| scholar | rs34049764 |
| rs34049764 | |
| pharmgkb | rs34049764 |
| gwascentral | rs34049764 |
| openSNP | rs34049764 |
| 23andMe | rs34049764 |
| SNPshot | rs34049764 |
| SNPdbe | rs34049764 |
| MSV3d | rs34049764 |
| GWAS Ctlg | rs34049764 |
| GMAF | 0.0 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34049764(T;T) |
| Alt | rs34049764(T;T) |
| Reference | Rs34049764(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN TSUKUMI |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN TSUKUMI |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246923G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016849.2, |
[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.
[PMID 12403495] Four new beta chain hemoglobin variants without clinical or hematological effects: Hb San Bruno [beta39(C5)Gln-->His]; Hb Fort Dodge [beta93(F9)Cys-Tyr]; Hb Rhode Island [beta116(G18)His-->Tyr]; and Hb Inglewood [beta142(H20)Ala-->Thr].
