rs33985510
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33985510(C;C) |
| Make rs33985510(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226596 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33985510 |
| dbSNP (classic) | rs33985510 |
| ClinGen | rs33985510 |
| ebi | rs33985510 |
| HLI | rs33985510 |
| Exac | rs33985510 |
| Gnomad | rs33985510 |
| Varsome | rs33985510 |
| LitVar | rs33985510 |
| Map | rs33985510 |
| PheGenI | rs33985510 |
| Biobank | rs33985510 |
| 1000 genomes | rs33985510 |
| hgdp | rs33985510 |
| ensembl | rs33985510 |
| geneview | rs33985510 |
| scholar | rs33985510 |
| rs33985510 | |
| pharmgkb | rs33985510 |
| gwascentral | rs33985510 |
| openSNP | rs33985510 |
| 23andMe | rs33985510 |
| SNPshot | rs33985510 |
| SNPdbe | rs33985510 |
| MSV3d | rs33985510 |
| GWAS Ctlg | rs33985510 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33985510(A;A) rs33985510(C;C) rs33985510(G;G) |
| Alt | rs33985510(A;A) rs33985510(C;C) rs33985510(G;G) |
| Reference | Rs33985510(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN NOTTINGHAM HEMOGLOBIN DJELFA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN NOTTINGHAM HEMOGLOBIN DJELFA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247826A>C; NC_000011.9:g.5247826A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016523.2, RCV000016326.2, |
[PMID 701088] Hb Nottingham (alpha2beta2 (FG5) 98 val leads to gly) in a Caucasian male: clinical and biosynthetic studies.
[PMID 1634365] Hb Nottingham or alpha 2 beta 2(98)(FG5)Val----Gly observed as a de novo mutation in a Canadian child.
[PMID 13850] Hemoglobin Djelfa beta98 (FG 5) Val leads to Ala: isolation and functional properties of the heme saturated form.
[PMID 1225587] A new unstable hemoglobin mutated in beta 98 (FG 5) Val leads to Ala: hb Djelfa.
[PMID 2737917] Two rare unstable beta chain variants, Hb Mozhaisk or alpha 2 beta 292(F8)His----Arg and Hb Djelfa or alpha 2 beta 298(Fg5)Val----Ala, each being observed for the second time.
