rs33935983
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33935983(C;C) |
| Make rs33935983(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226723 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33935983 |
| dbSNP (classic) | rs33935983 |
| ClinGen | rs33935983 |
| ebi | rs33935983 |
| HLI | rs33935983 |
| Exac | rs33935983 |
| Gnomad | rs33935983 |
| Varsome | rs33935983 |
| LitVar | rs33935983 |
| Map | rs33935983 |
| PheGenI | rs33935983 |
| Biobank | rs33935983 |
| 1000 genomes | rs33935983 |
| hgdp | rs33935983 |
| ensembl | rs33935983 |
| geneview | rs33935983 |
| scholar | rs33935983 |
| rs33935983 | |
| pharmgkb | rs33935983 |
| gwascentral | rs33935983 |
| openSNP | rs33935983 |
| 23andMe | rs33935983 |
| SNPshot | rs33935983 |
| SNPdbe | rs33935983 |
| MSV3d | rs33935983 |
| GWAS Ctlg | rs33935983 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33935983(A;A) rs33935983(C;C) rs33935983(T;T) |
| Alt | rs33935983(A;A) rs33935983(C;C) rs33935983(T;T) |
| Reference | Rs33935983(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN HAMADAN HEMOGLOBIN POISSY |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN HAMADAN HEMOGLOBIN POISSY |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247953C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016369.3, RCV000016553.2, |
[PMID 1122305] Haemoglobin hamadan: alpha-2A beta-2 56 (D7) glycine yields arginine.
[PMID 6508871] Hemoglobin Hamadan or alpha 2 beta 256(D7)Gly----Arg in a Turkish family.
[PMID 17654074] Hb Leeds [beta56(D7)Gly-->Cys]: a new hemoglobin that aggravates anemia in a child with beta(0)-thalassemia trait.
