rs33949869
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs33949869(C;C) |
| Make rs33949869(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225606 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33949869 |
| dbSNP (classic) | rs33949869 |
| ClinGen | rs33949869 |
| ebi | rs33949869 |
| HLI | rs33949869 |
| Exac | rs33949869 |
| Gnomad | rs33949869 |
| Varsome | rs33949869 |
| LitVar | rs33949869 |
| Map | rs33949869 |
| PheGenI | rs33949869 |
| Biobank | rs33949869 |
| 1000 genomes | rs33949869 |
| hgdp | rs33949869 |
| ensembl | rs33949869 |
| geneview | rs33949869 |
| scholar | rs33949869 |
| rs33949869 | |
| pharmgkb | rs33949869 |
| gwascentral | rs33949869 |
| openSNP | rs33949869 |
| 23andMe | rs33949869 |
| SNPshot | rs33949869 |
| SNPdbe | rs33949869 |
| MSV3d | rs33949869 |
| GWAS Ctlg | rs33949869 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33949869(A;A) rs33949869(C;C) rs33949869(G;G) |
| Alt | rs33949869(A;A) rs33949869(C;C) rs33949869(G;G) |
| Reference | Rs33949869(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN BETHESDA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BETHESDA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246836A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016267.2, |
[PMID 949044] Hemoglobin Bethesda, beta 145 (HC2) Tyr replaced by His, in a Canadian family.
[PMID 4639015
] Structural and functional studies on hemoglobin Bethesda (alpha2beta2 145His), a varient associated with compensatory erythrocytosis.
[PMID 5030636] The functional properties of hemoglobin Bethesda ( 2 2 145His ).
[PMID 5080413] Erythrocyte function and marrow regulation in hemoglobin Bethesda (beta-145 histidine).
[PMID 1117598] Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp).
[PMID 1164510] Hemoglobin Fort Gordon or alpha2beta2145 Tyr replaced by Asp, a new high-oxygen-affinity hemoglobin variant.
[PMID 7158624] Hemoglobin Osler: report of a new family with exercise studies before and after phlebotomy.
[PMID 8701949] Hemoglobin S/hemoglobin Osler: a case with 3 beta globin chains. DNA sequence (AAT) proves that Hb Osler is beta 145 Tyr-->Asn.
[PMID 9101280] Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modification.
[PMID 9405] X-ray and functional studies of hemoglobins Nancy and Cochin-Port-Royal.
[PMID 239863] Structural and functional study of Hb Nancy beta 145 (HC 2) Tyr replaced by Asp. A high oxygen affinity hemoglobin.
[PMID 9766188] Hb Nancy and Hb Osler: two distinct genetic variants with identical clinical and hemoglobin phenotype.
