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rs33944208

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Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33944208(A;A)
Make rs33944208(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position5227159
GeneHBB
is asnp
is mentioned by
dbSNPrs33944208
ebirs33944208
HLIrs33944208
Exacrs33944208
Varsomers33944208
Maprs33944208
PheGenIrs33944208
hapmaprs33944208
1000 genomesrs33944208
hgdprs33944208
ensemblrs33944208
gopubmedrs33944208
geneviewrs33944208
scholarrs33944208
googlers33944208
pharmgkbrs33944208
gwascentralrs33944208
openSNPrs33944208
23andMers33944208
23andMe allrs33944208
SNP Nexus

SNPshotrs33944208
SNPdbers33944208
MSV3drs33944208
GWAS Ctlgrs33944208
Max Magnitude0
OMIM141900
Desc
Variant0372
Relatedalso
OMIM141900
Desc
Variant0373
Relatedalso


ClinVar
Risk rs33944208(A,G,T;A,G,T)
Alt rs33944208(A,G,T;A,G,T)
Reference rs33944208(C;C)
Significance Pathogenic
Disease Beta-plus-thalassemia alpha Thalassemia Beta thalassemia intermedia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia alpha Thalassemia Beta thalassemia intermedia
Reversed 1
HGVS NC_000011.9:g.5248389G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016718.26, RCV000020324.1, RCV000029953.1,



[PMID 1986379OA-icon.png] Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.


[PMID 1384315] Black beta-thalassemia homozygotes with specific sequence variations in the 5' hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin.


[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.


[PMID 3462712OA-icon.png] On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.


[PMID 6086605] Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.


[PMID 9401495] Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.