rs33990253
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (GT;GT) | 0 | common in clinvar |
| Make rs33990253(C;C) |
| Make rs33990253(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226711 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33990253 |
| dbSNP (classic) | rs33990253 |
| ClinGen | rs33990253 |
| ebi | rs33990253 |
| HLI | rs33990253 |
| Exac | rs33990253 |
| Gnomad | rs33990253 |
| Varsome | rs33990253 |
| LitVar | rs33990253 |
| Map | rs33990253 |
| PheGenI | rs33990253 |
| Biobank | rs33990253 |
| 1000 genomes | rs33990253 |
| hgdp | rs33990253 |
| ensembl | rs33990253 |
| geneview | rs33990253 |
| scholar | rs33990253 |
| rs33990253 | |
| pharmgkb | rs33990253 |
| gwascentral | rs33990253 |
| openSNP | rs33990253 |
| 23andMe | rs33990253 |
| SNPshot | rs33990253 |
| SNPdbe | rs33990253 |
| MSV3d | rs33990253 |
| GWAS Ctlg | rs33990253 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33990253(C;C) |
| Alt | rs33990253(C;C) |
| Reference | Rs33990253(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN YATSUSHIRO |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN YATSUSHIRO |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247941C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016646.2, |
[PMID 620052] A new hemoglobin variant. HB Yatsushiro alpha 2 A beta 2 60 Val replaced by Leu.
