rs33969677
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (GT;GT) | 0 | common in clinvar |
| Make rs33969677(A;A) |
| Make rs33969677(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225714 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33969677 |
| dbSNP (classic) | rs33969677 |
| ClinGen | rs33969677 |
| ebi | rs33969677 |
| HLI | rs33969677 |
| Exac | rs33969677 |
| Gnomad | rs33969677 |
| Varsome | rs33969677 |
| LitVar | rs33969677 |
| Map | rs33969677 |
| PheGenI | rs33969677 |
| Biobank | rs33969677 |
| 1000 genomes | rs33969677 |
| hgdp | rs33969677 |
| ensembl | rs33969677 |
| geneview | rs33969677 |
| scholar | rs33969677 |
| rs33969677 | |
| pharmgkb | rs33969677 |
| gwascentral | rs33969677 |
| openSNP | rs33969677 |
| 23andMe | rs33969677 |
| SNPshot | rs33969677 |
| SNPdbe | rs33969677 |
| MSV3d | rs33969677 |
| GWAS Ctlg | rs33969677 |
| Merged from | Rs121909812, Rs121909818 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33969677(A;A) rs33969677(C;C) rs33969677(T;T) |
| Alt | rs33969677(A;A) rs33969677(C;C) rs33969677(T;T) |
| Reference | Rs33969677(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN JOHNSTOWN HEMOGLOBIN SAN DIEGO Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN JOHNSTOWN HEMOGLOBIN SAN DIEGO beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246944C>G; NC_000011.9:g.5246944C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016428.2, RCV000016585.2, RCV000169614.1, |
[PMID 1201208] Erythraemia due to haemoglobin San Diego.
[PMID 4808644
] Hemoglobinopathic erythrocytosis due to a new electrophoretically silent variant, hemoglobin San Diego (beta109 (G11)val--met).
[PMID 4808645] Hemoglobin San Diego (beta 109 (G11) val--met). Crystal structure of the deoxy form.
[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 7615400] Compound heterozygosity for two beta chain variants: Hb S [beta 6(A3)Glu-->Val] and the high affinity variant Hb San Diego [beta 109(G11)Val-->Met].
[PMID 2272838] Hb Johnstown [beta 109 (G11) Val----Leu]: a new electrophoretically silent variant that causes erythrocytosis.
[PMID 11074558] Hb Johnstown [beta 109 (G11) Val-->Leu]: second case described and associated for the first time with beta(0)-thalassemia in two Spanish families.
[PMID 15658189] Hb Johnstown [beta109(G11)Val-->Leu]: A high oxygen affinity variant associated with beta0-thalassemia.
