rs33947020
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33947020(G;T) |
| Make rs33947020(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225683 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33947020 |
| dbSNP (classic) | rs33947020 |
| ClinGen | rs33947020 |
| ebi | rs33947020 |
| HLI | rs33947020 |
| Exac | rs33947020 |
| Gnomad | rs33947020 |
| Varsome | rs33947020 |
| LitVar | rs33947020 |
| Map | rs33947020 |
| PheGenI | rs33947020 |
| Biobank | rs33947020 |
| 1000 genomes | rs33947020 |
| hgdp | rs33947020 |
| ensembl | rs33947020 |
| geneview | rs33947020 |
| scholar | rs33947020 |
| rs33947020 | |
| pharmgkb | rs33947020 |
| gwascentral | rs33947020 |
| openSNP | rs33947020 |
| 23andMe | rs33947020 |
| SNPshot | rs33947020 |
| SNPdbe | rs33947020 |
| MSV3d | rs33947020 |
| GWAS Ctlg | rs33947020 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33947020(A;A) rs33947020(C;C) rs33947020(T;T) |
| Alt | rs33947020(A;A) rs33947020(C;C) rs33947020(T;T) |
| Reference | Rs33947020(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN BOUGARDIREY-MALI HEMOGLOBIN IOWA HEMOGLOBIN FANNIN-LUBBOCK HEMOGLOBIN MASUDA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BOUGARDIREY-MALI HEMOGLOBIN IOWA HEMOGLOBIN FANNIN-LUBBOCK HEMOGLOBIN MASUDA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246913C>A; NC_000011.9:g.5246913C>G; NC_000011.9:g.5246913C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016263.3, RCV000016743.3, RCV000016336.3, RCV000016486.2, |
[PMID 500370] Hemoglobin Bougardirey-Mali beta 119 (GH2) Gly replaced by Val. An electrophoretically silent variant migrating in isoelectrofocusing as Hb F.
[PMID 15008260] Diagnosis and characterization of Hb C/Hb Iowa: a rare but easily misidentified compound heterozygous condition.
[PMID 15481899] DNA sequence of Hb Iowa.
