rs35890959
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs35890959(A;A) |
| Make rs35890959(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226961 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35890959 |
| dbSNP (classic) | rs35890959 |
| ClinGen | rs35890959 |
| ebi | rs35890959 |
| HLI | rs35890959 |
| Exac | rs35890959 |
| Gnomad | rs35890959 |
| Varsome | rs35890959 |
| LitVar | rs35890959 |
| Map | rs35890959 |
| PheGenI | rs35890959 |
| Biobank | rs35890959 |
| 1000 genomes | rs35890959 |
| hgdp | rs35890959 |
| ensembl | rs35890959 |
| geneview | rs35890959 |
| scholar | rs35890959 |
| rs35890959 | |
| pharmgkb | rs35890959 |
| gwascentral | rs35890959 |
| openSNP | rs35890959 |
| 23andMe | rs35890959 |
| SNPshot | rs35890959 |
| SNPdbe | rs35890959 |
| MSV3d | rs35890959 |
| GWAS Ctlg | rs35890959 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35890959(A;A) rs35890959(T;T) |
| Alt | rs35890959(A;A) rs35890959(T;T) |
| Reference | Rs35890959(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN OLYMPIA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN OLYMPIA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248191C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016533.3, |
[PMID 2599884] Hb Olympia [beta 20 (B2) Val----MeT] in a Swedish family.
[PMID 4683875
] Hemoglobin olympia ( 20 valine leads to methionine): an electrophoretically silent variant associated with high oxygen affinity and erythrocytosis.
[PMID 6863429] Identification and quantitation of Hb Olympia [beta 20(B2)Val leads to Met] and Hb San Diego [beta 109(G11)Val leads to Met] by high-performance liquid chromatography.
[PMID 8891722] Abnormal hemoglobins with high oxygen affinity and erythrocytosis.
