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rs33991059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GG;GG) 0 common in clinvar
Make rs33991059(C;C)
Make rs33991059(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226779
GeneHBB
is asnp
is mentioned by
dbSNPrs33991059
ebirs33991059
HLIrs33991059
Exacrs33991059
Varsomers33991059
Maprs33991059
PheGenIrs33991059
hapmaprs33991059
1000 genomesrs33991059
hgdprs33991059
ensemblrs33991059
gopubmedrs33991059
geneviewrs33991059
scholarrs33991059
googlers33991059
pharmgkbrs33991059
gwascentralrs33991059
openSNPrs33991059
23andMers33991059
23andMe allrs33991059
SNP Nexus

SNPshotrs33991059
SNPdbers33991059
MSV3drs33991059
GWAS Ctlgrs33991059
Merged fromRs121909808
Max Magnitude0
OMIM141900
Desc
Variant0109
Relatedalso
ClinVar
Risk rs33991059(A,C;A,C)
Alt rs33991059(A,C;A,C)
Reference rs33991059(G;G)
Significance Other
Disease HEMOGLOBIN HIROSE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HIROSE
Reversed 1
HGVS NC_000011.9:g.5248009C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016382.2,


[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.