rs33918338
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (AC;AC) | 0 | common in clinvar |
| Make rs33918338(A;G) |
| Make rs33918338(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225611 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33918338 |
| dbSNP (classic) | rs33918338 |
| ClinGen | rs33918338 |
| ebi | rs33918338 |
| HLI | rs33918338 |
| Exac | rs33918338 |
| Gnomad | rs33918338 |
| Varsome | rs33918338 |
| LitVar | rs33918338 |
| Map | rs33918338 |
| PheGenI | rs33918338 |
| Biobank | rs33918338 |
| 1000 genomes | rs33918338 |
| hgdp | rs33918338 |
| ensembl | rs33918338 |
| geneview | rs33918338 |
| scholar | rs33918338 |
| rs33918338 | |
| pharmgkb | rs33918338 |
| gwascentral | rs33918338 |
| openSNP | rs33918338 |
| 23andMe | rs33918338 |
| SNPshot | rs33918338 |
| SNPdbe | rs33918338 |
| MSV3d | rs33918338 |
| GWAS Ctlg | rs33918338 |
| Merged from | Rs121909805, Rs121909820 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33918338(C;C) rs33918338(G;G) rs33918338(T;T) |
| Alt | rs33918338(C;C) rs33918338(G;G) rs33918338(T;T) |
| Reference | Rs33918338(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN ABRUZZO HEMOGLOBIN SYRACUSE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN ABRUZZO HEMOGLOBIN SYRACUSE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246841T>C; NC_000011.9:g.5246841T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016243.3, RCV000016616.2, |
[PMID 239943] Hemoglobin Abruzzo (beta143 (H21) His replaced by Arg). Consequences of altering the 2,3-diphosphoglycerate binding site.
[PMID 1158862] Allosteric interactions in non-alpha chains isolated from normal human hemoglobin, fetal hemoglobin, and hemoglobin Abruzzo (beta143 (H21) His replaced by Arg).
[PMID 5031790] Hemoglobin Abruzzo: beta 143 (H 21) His leads to Arg.
[PMID 234980
] Hemoglobin Syracuse (alpha2beta2-143(H21)His leads to Pro), a new high-affinity variant detected by special electrophoretic methods. Observations on the auto-oxidation of normal and variant hemoglobins.
