rs33971848
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33971848(C;C) |
| Make rs33971848(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225675 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33971848 |
| dbSNP (classic) | rs33971848 |
| ClinGen | rs33971848 |
| ebi | rs33971848 |
| HLI | rs33971848 |
| Exac | rs33971848 |
| Gnomad | rs33971848 |
| Varsome | rs33971848 |
| LitVar | rs33971848 |
| Map | rs33971848 |
| PheGenI | rs33971848 |
| Biobank | rs33971848 |
| 1000 genomes | rs33971848 |
| hgdp | rs33971848 |
| ensembl | rs33971848 |
| geneview | rs33971848 |
| scholar | rs33971848 |
| rs33971848 | |
| pharmgkb | rs33971848 |
| gwascentral | rs33971848 |
| openSNP | rs33971848 |
| 23andMe | rs33971848 |
| SNPshot | rs33971848 |
| SNPdbe | rs33971848 |
| MSV3d | rs33971848 |
| GWAS Ctlg | rs33971848 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33971848(A;A) rs33971848(C;C) rs33971848(G;G) |
| Alt | rs33971848(A;A) rs33971848(C;C) rs33971848(G;G) |
| Reference | Rs33971848(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN BUSHEY HEMOGLOBIN CASABLANCA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BUSHEY HEMOGLOBIN CASABLANCA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246905A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016847.2, RCV000016848.2, |
[PMID 10870883] Two new variants with the same substitution at position beta122: Hb Bushey [beta122(GH5)Phe-->Leu] and Hb Casablanca [beta65(E9)lys-->Met; beta122(GH5)Phe-->Leu].
