rs33927093
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33927093(A;A) |
| Make rs33927093(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225620 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33927093 |
| dbSNP (classic) | rs33927093 |
| ClinGen | rs33927093 |
| ebi | rs33927093 |
| HLI | rs33927093 |
| Exac | rs33927093 |
| Gnomad | rs33927093 |
| Varsome | rs33927093 |
| LitVar | rs33927093 |
| Map | rs33927093 |
| PheGenI | rs33927093 |
| Biobank | rs33927093 |
| 1000 genomes | rs33927093 |
| hgdp | rs33927093 |
| ensembl | rs33927093 |
| geneview | rs33927093 |
| scholar | rs33927093 |
| rs33927093 | |
| pharmgkb | rs33927093 |
| gwascentral | rs33927093 |
| openSNP | rs33927093 |
| 23andMe | rs33927093 |
| SNPshot | rs33927093 |
| SNPdbe | rs33927093 |
| MSV3d | rs33927093 |
| GWAS Ctlg | rs33927093 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33927093(A;A) rs33927093(T;T) |
| Alt | rs33927093(A;A) rs33927093(T;T) |
| Reference | Rs33927093(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN PUTTELANGE HEMOGLOBIN HIMEJI |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN PUTTELANGE HEMOGLOBIN HIMEJI |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246850G>A; NC_000011.9:g.5246850G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016811.2, RCV000016380.2, |
[PMID 1680833] Hb Himeji [alpha 2 beta 2(140)(H18)Ala----Asp] is linked to different haplotypes in Japanese and Portuguese families.
[PMID 2753739] Hb Himeji or alpha 2 beta 2(140)(H18)Ala----Asp in a Portuguese family.
[PMID 3754244] Hb Himeji or beta 140 (H18) Ala----Asp. A slightly unstable hemoglobin with increased beta N-terminal glycation.
[PMID 8522332] Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity.
