rs33949486
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33949486(A;A) |
| Make rs33949486(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225632 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33949486 |
| dbSNP (classic) | rs33949486 |
| ClinGen | rs33949486 |
| ebi | rs33949486 |
| HLI | rs33949486 |
| Exac | rs33949486 |
| Gnomad | rs33949486 |
| Varsome | rs33949486 |
| LitVar | rs33949486 |
| Map | rs33949486 |
| PheGenI | rs33949486 |
| Biobank | rs33949486 |
| 1000 genomes | rs33949486 |
| hgdp | rs33949486 |
| ensembl | rs33949486 |
| geneview | rs33949486 |
| scholar | rs33949486 |
| rs33949486 | |
| pharmgkb | rs33949486 |
| gwascentral | rs33949486 |
| openSNP | rs33949486 |
| 23andMe | rs33949486 |
| SNPshot | rs33949486 |
| SNPdbe | rs33949486 |
| MSV3d | rs33949486 |
| GWAS Ctlg | rs33949486 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33949486(A;A) rs33949486(C;C) |
| Alt | rs33949486(A;A) rs33949486(C;C) |
| Reference | Rs33949486(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | not specified beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246862C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016385.4, RCV000029996.1, |
[PMID 721614] Association of Hb Hope with beta (0) thalassemia.
[PMID 6723027] Hemoglobin "Hope" interferes with measurement of glycated hemoglobin by ion-exchange chromatography and electrophoresis.
[PMID 6874374] Hb Hope [beta 136 (H 14) Gly leads to Asp] in a Japanese family.
[PMID 15658184] Hb Hope [beta136(H14)Gly-->Asp (GGT-->GAT)]: interactions with Hb S [beta6(A3)Glu-->Val (GAG-->GTG)], other variant hemoglobins and thalassemia.
[PMID 17655700] Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease.
[PMID 19460936
] Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.
[PMID 429843] Oxygen transport in a woman with hemoglobin Hope/beta+ thalassemia.
[PMID 808079] Hb Camden and Hb Hope found during routine testing.
[PMID 932531] Hemoglobin Hope: studies of oxygen equilibrium in heterozygotes, hemoglobin S-Hope disease, and isolated hemoglobin Hope.
[PMID 1111279] Hemoglobin hope: beta136 (H13) Gly leads to Asp in Georgia.
[PMID 1428947] Association of Hb Hope [beta 136(H14)Gly----Asp] and alpha-thalassemia-2 (3.7 Kb deletion) causing severe microcytic anemia.
[PMID 1634366] Hb Hope [beta 136(H14) Gly----Asp] and Hb E [beta 26(B8)Glu----Lys]: compound heterozygosity in a Thai Mien family.
[PMID 6500990] Interaction between Hb S and Hb Hope in a Cuban family.
