rs33917785
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33917785(G;G) |
| Make rs33917785(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226617 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33917785 |
| dbSNP (classic) | rs33917785 |
| ClinGen | rs33917785 |
| ebi | rs33917785 |
| HLI | rs33917785 |
| Exac | rs33917785 |
| Gnomad | rs33917785 |
| Varsome | rs33917785 |
| LitVar | rs33917785 |
| Map | rs33917785 |
| PheGenI | rs33917785 |
| Biobank | rs33917785 |
| 1000 genomes | rs33917785 |
| hgdp | rs33917785 |
| ensembl | rs33917785 |
| geneview | rs33917785 |
| scholar | rs33917785 |
| rs33917785 | |
| pharmgkb | rs33917785 |
| gwascentral | rs33917785 |
| openSNP | rs33917785 |
| 23andMe | rs33917785 |
| SNPshot | rs33917785 |
| SNPdbe | rs33917785 |
| MSV3d | rs33917785 |
| GWAS Ctlg | rs33917785 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33917785(C;C) rs33917785(G;G) |
| Alt | rs33917785(C;C) rs33917785(G;G) |
| Reference | Rs33917785(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN CARIBBEAN HEMOGLOBIN SABINE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN CARIBBEAN HEMOGLOBIN SABINE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247847A>C; NC_000011.9:g.5247847A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016294.2, RCV000016581.4, |
[PMID 4745776] Structure and synthesis of the unstable hemoglobin Sabin (alpha 2 beta 2--91 Leu leads to pro).
[PMID 5160147] Unstable hemoglobin hemolytic anemia: in vitro incubation studies on erythrocytes with hemoglobin Sabine.
[PMID 5773354] Hemoglobin sabine beta 91 (f 7) leu to pro. An unstable variant causing severe anemia with inclusion bodies.
[PMID 6671906] Hb Sabine or alpha 2 beta 2 91 (F7) Leu----Pro in a Yugoslavian boy.
[PMID 9629500] Familial hemolytic anemia due to Hb Sabine [beta 91(F7)Leu-->Pro] identified by polymerase chain reaction.
[PMID 992050] Haemoglobin caribbean beta91 (F7) Leu replaced by Arg: a mildly haemoglobin with a low oxygen affinity.
[PMID 3384706] Some rare hemoglobin variants with altered oxygen affinities; Hb linkoping [beta 36(C2)Pro----Thr], Hb Caribbean [beta 91(F7)Leu----Arg], and Hb Sunnybrook [beta 36(C2)Pro----Arg].
[PMID 8042613] DNA diagnosis of Hb S and Hb Caribbean (alpha 2 beta 2 91 Leu-->Arg) in a Jamaican family.
