rs33972593
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33972593(A;A) |
| Make rs33972593(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226686 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33972593 |
| dbSNP (classic) | rs33972593 |
| ClinGen | rs33972593 |
| ebi | rs33972593 |
| HLI | rs33972593 |
| Exac | rs33972593 |
| Gnomad | rs33972593 |
| Varsome | rs33972593 |
| LitVar | rs33972593 |
| Map | rs33972593 |
| PheGenI | rs33972593 |
| Biobank | rs33972593 |
| 1000 genomes | rs33972593 |
| hgdp | rs33972593 |
| ensembl | rs33972593 |
| geneview | rs33972593 |
| scholar | rs33972593 |
| rs33972593 | |
| pharmgkb | rs33972593 |
| gwascentral | rs33972593 |
| openSNP | rs33972593 |
| 23andMe | rs33972593 |
| SNPshot | rs33972593 |
| SNPdbe | rs33972593 |
| MSV3d | rs33972593 |
| GWAS Ctlg | rs33972593 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33972593(A;A) rs33972593(C;C) |
| Alt | rs33972593(A;A) rs33972593(C;C) |
| Reference | Rs33972593(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN MIZUHO HEMOGLOBIN BRISBANE HEMOGLOBIN GREAT LAKES |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN MIZUHO HEMOGLOBIN BRISBANE HEMOGLOBIN GREAT LAKES |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247916A>G; NC_000011.9:g.5247916A>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016497.2, RCV000016272.3, RCV000016273.3, |
[PMID 893142] Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new unstable variant associated with severe hemolytic anemia.
[PMID 1726094] Hb Mizuho or alpha 2 beta (2)68(E12)Leu----Pro in a Caucasian boy with high levels of Hb F; identification by sequencing of amplified DNA.
[PMID 2272836] Hb Mizuho [beta 68(E12)Leu----Pro]. Second occurrence identified in a Caucasian child with hemolytic anemia and dense erythrocyte inclusions.
[PMID 7558877] HB Mizuho or alpha 2 beta 2 68(E12)Leu-->Pro in a young Dutch boy.
[PMID 6166590] Hemoglobin Brisbane: beta68 Leu replaced by His. A new high oxygen affinity variant.
[PMID 6629830] Hb Brisbane (beta 68 (E12) Leu replaced by His) is unstable.
[PMID 7272510] Hemoglobin Great Lakes (beta 68 [E12] leucine replaced by histidine): a new high-affinity hemoglobin.
[PMID 7419431] Hemoglobinopathies in Oceania.
