rs33993004
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33993004(A;A) |
| Make rs33993004(A;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226782 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33993004 |
| dbSNP (classic) | rs33993004 |
| ClinGen | rs33993004 |
| ebi | rs33993004 |
| HLI | rs33993004 |
| Exac | rs33993004 |
| Gnomad | rs33993004 |
| Varsome | rs33993004 |
| LitVar | rs33993004 |
| Map | rs33993004 |
| PheGenI | rs33993004 |
| Biobank | rs33993004 |
| 1000 genomes | rs33993004 |
| hgdp | rs33993004 |
| ensembl | rs33993004 |
| geneview | rs33993004 |
| scholar | rs33993004 |
| rs33993004 | |
| pharmgkb | rs33993004 |
| gwascentral | rs33993004 |
| openSNP | rs33993004 |
| 23andMe | rs33993004 |
| SNPshot | rs33993004 |
| SNPdbe | rs33993004 |
| MSV3d | rs33993004 |
| GWAS Ctlg | rs33993004 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33993004(A;A) rs33993004(G;G) |
| Alt | rs33993004(A;A) rs33993004(G;G) |
| Reference | Rs33993004(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN SUNNYBROOK HEMOGLOBIN VILA REAL |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN SUNNYBROOK HEMOGLOBIN VILA REAL |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248012G>C; NC_000011.9:g.5248012G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016614.2, RCV000016845.2, |
[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 10722117] Hb Vila Real [beta36(C2)Pro-->His]: a newly discovered high oxygen affinity variant.
[PMID 11939509] Hb Vila Real [beta36(C2)Pro-->His] in Italy: characterization of the amino acid substitution and the DNA mutation.
