rs33968721
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33968721(A;A) |
| Make rs33968721(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226948 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33968721 |
| dbSNP (classic) | rs33968721 |
| ClinGen | rs33968721 |
| ebi | rs33968721 |
| HLI | rs33968721 |
| Exac | rs33968721 |
| Gnomad | rs33968721 |
| Varsome | rs33968721 |
| LitVar | rs33968721 |
| Map | rs33968721 |
| PheGenI | rs33968721 |
| Biobank | rs33968721 |
| 1000 genomes | rs33968721 |
| hgdp | rs33968721 |
| ensembl | rs33968721 |
| geneview | rs33968721 |
| scholar | rs33968721 |
| rs33968721 | |
| pharmgkb | rs33968721 |
| gwascentral | rs33968721 |
| openSNP | rs33968721 |
| 23andMe | rs33968721 |
| SNPshot | rs33968721 |
| SNPdbe | rs33968721 |
| MSV3d | rs33968721 |
| GWAS Ctlg | rs33968721 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33968721(A;A) rs33968721(T;T) |
| Alt | rs33968721(A;A) rs33968721(T;T) |
| Reference | Rs33968721(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN SAVANNAH HEMOGLOBIN MOSCVA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN SAVANNAH HEMOGLOBIN MOSCVA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248178C>A; NC_000011.9:g.5248178C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016587.3, RCV000016501.2, |
[PMID 5545125
] Hemoglobin Savannah (B6(24) beta-glycine is greater than valine): an unstable variant causing anemia with inclusion bodies.
[PMID 4525423] New unstable haemoglobin (Hb Moscva, beta24 (B4) Gly leads to Asp) found in the USSR.
