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rs121909808

From SNPedia

Merged intors33991059
Orientationminus
Stabilizedminus
Make rs121909808(C;C)
Make rs121909808(C;G)
Make rs121909808(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226779
GeneHBB
is asnp
is mentioned by
dbSNPrs121909808
ebirs121909808
HLIrs121909808
Exacrs121909808
Varsomers121909808
Maprs121909808
PheGenIrs121909808
hapmaprs121909808
1000 genomesrs121909808
hgdprs121909808
ensemblrs121909808
gopubmedrs121909808
geneviewrs121909808
scholarrs121909808
googlers121909808
pharmgkbrs121909808
gwascentralrs121909808
openSNPrs121909808
23andMers121909808
23andMe allrs121909808
SNP Nexus

SNPshotrs121909808
SNPdbers121909808
MSV3drs121909808
GWAS Ctlgrs121909808
StatusMerged into rs33991059
Max Magnitude
OMIM141900
Desc
Variant0109
Relatedalso
[PMID 5056652OA-icon.png] 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.