rs121909808
From SNPedia
Merged into | rs33991059 |
Orientation | minus |
Stabilized | minus |
Make rs121909808(C;C) |
Make rs121909808(C;G) |
Make rs121909808(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226779 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs121909808 |
dbSNP (classic) | rs121909808 |
ClinGen | rs121909808 |
ebi | rs121909808 |
HLI | rs121909808 |
Exac | rs121909808 |
Gnomad | rs121909808 |
Varsome | rs121909808 |
LitVar | rs121909808 |
Map | rs121909808 |
PheGenI | rs121909808 |
Biobank | rs121909808 |
1000 genomes | rs121909808 |
hgdp | rs121909808 |
ensembl | rs121909808 |
geneview | rs121909808 |
scholar | rs121909808 |
rs121909808 | |
pharmgkb | rs121909808 |
gwascentral | rs121909808 |
openSNP | rs121909808 |
23andMe | rs121909808 |
SNPshot | rs121909808 |
SNPdbe | rs121909808 |
MSV3d | rs121909808 |
GWAS Ctlg | rs121909808 |
Status | Merged into rs33991059 |
Max Magnitude | 0 |
[PMID 5056652] Oxygen equilibrium characteristics of abnormal hemoglobins. Hirose (alpha-2-beta-2-37Ser), L Ferrara (alpha-2-47-Gly-beta-2), Broussais (alpha-2-90-Asn-beta-2), and Dhofar (alpha-2-beta-2-58Arg).
[PMID 5126162] Hemoglobin Hirose: 2 237(C3) tryptophan yielding serine.
[PMID 6671905] Two further examples of Hb Hirose, beta 37 (C3) Trp----Ser.
[PMID 16114184] Beta-thalassemia due to a novel nonsense mutation at codon 37 (TGG-->TAG) found in an Afghanistani family.