rs33920173
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33920173(G;G) |
| Make rs33920173(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226797 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33920173 |
| dbSNP (classic) | rs33920173 |
| ClinGen | rs33920173 |
| ebi | rs33920173 |
| HLI | rs33920173 |
| Exac | rs33920173 |
| Gnomad | rs33920173 |
| Varsome | rs33920173 |
| LitVar | rs33920173 |
| Map | rs33920173 |
| PheGenI | rs33920173 |
| Biobank | rs33920173 |
| 1000 genomes | rs33920173 |
| hgdp | rs33920173 |
| ensembl | rs33920173 |
| geneview | rs33920173 |
| scholar | rs33920173 |
| rs33920173 | |
| pharmgkb | rs33920173 |
| gwascentral | rs33920173 |
| openSNP | rs33920173 |
| 23andMe | rs33920173 |
| SNPshot | rs33920173 |
| SNPdbe | rs33920173 |
| MSV3d | rs33920173 |
| GWAS Ctlg | rs33920173 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33920173(C;C) rs33920173(G;G) |
| Alt | rs33920173(C;C) rs33920173(G;G) |
| Reference | Rs33920173(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN YOKOHAMA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN YOKOHAMA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248027A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016647.3, |
[PMID 1814855] Hb Yokohama [beta 31 (B13)Leu----Pro] detected as a de novo mutation in a Yugoslavian boy.
[PMID 7338469] A new unstable hemoglobin, Hb Yokohama beta 31 (B13)Leu substituting for Pro, causing hemolytic anemia.
[PMID 7558872] Hb Hakkari or alpha 2 beta 2 31(B13)Leu-->Arg, a severely unstable hemoglobin variant associated with numerous intra-erythroblastic inclusions and erythroid hyperplasia of the bone marrow.
