rs33957964
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33957964(C;C) |
| Make rs33957964(C;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5225708 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33957964 |
| dbSNP (classic) | rs33957964 |
| ClinGen | rs33957964 |
| ebi | rs33957964 |
| HLI | rs33957964 |
| Exac | rs33957964 |
| Gnomad | rs33957964 |
| Varsome | rs33957964 |
| LitVar | rs33957964 |
| Map | rs33957964 |
| PheGenI | rs33957964 |
| Biobank | rs33957964 |
| 1000 genomes | rs33957964 |
| hgdp | rs33957964 |
| ensembl | rs33957964 |
| geneview | rs33957964 |
| scholar | rs33957964 |
| rs33957964 | |
| pharmgkb | rs33957964 |
| gwascentral | rs33957964 |
| openSNP | rs33957964 |
| 23andMe | rs33957964 |
| SNPshot | rs33957964 |
| SNPdbe | rs33957964 |
| MSV3d | rs33957964 |
| GWAS Ctlg | rs33957964 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33957964(C;C) rs33957964(T;T) |
| Alt | rs33957964(C;C) rs33957964(T;T) |
| Reference | Rs33957964(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN PETERBOROUGH HEMOGLOBIN FANNIN-LUBBOCK |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN PETERBOROUGH HEMOGLOBIN FANNIN-LUBBOCK |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246938C>A; NC_000011.9:g.5246938C>G |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016549.2, RCV000016336.3, |
[PMID 5057941] An unstable haemoglobin with reduced oxygen affinity: haemoglobin Peterborough, 3 (GI3) Valine lead to Phenylalanine, its interaction with normal haemoglobin and with haemoglobin Lepore.
[PMID 9494045] Hb Peterborough [beta 111(G13)Val-->Phe] in Japan; rapid identification by ESI/MS using proteolytic digests of oxidized globin.
