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rs33941377

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33941377(A;A)
Make rs33941377(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227158
GeneHBB
is asnp
is mentioned by
dbSNPrs33941377
ebirs33941377
HLIrs33941377
Exacrs33941377
Varsomers33941377
Maprs33941377
PheGenIrs33941377
hapmaprs33941377
1000 genomesrs33941377
hgdprs33941377
ensemblrs33941377
gopubmedrs33941377
geneviewrs33941377
scholarrs33941377
googlers33941377
pharmgkbrs33941377
gwascentralrs33941377
openSNPrs33941377
23andMers33941377
23andMe allrs33941377
SNP Nexus

SNPshotrs33941377
SNPdbers33941377
MSV3drs33941377
GWAS Ctlgrs33941377
Max Magnitude0
OMIM141900
Desc
Variant0374
Relatedalso
ClinVar
Risk rs33941377(A,G,T;A,G,T)
Alt rs33941377(A,G,T;A,G,T)
Reference rs33941377(C;C)
Significance Pathogenic
Disease Beta thalassemia intermedia Beta-plus-thalassemia
Variation info
Gene HBB
CLNDBN Beta thalassemia intermedia Beta-plus-thalassemia
Reversed 1
HGVS NC_000011.9:g.5248388G>A; NC_000011.9:g.5248388G>C; NC_000011.9:g.5248388G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000029952.1, RCV000016722.26, RCV000029951.1, RCV000029950.1,


[PMID 1428943] The -87 (C----A) beta(+)-thalassemia mutation in a black family.


[PMID 2375912] The homozygous state for the -87 C----G beta + thalassaemia.


[PMID 2446680] Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.


[PMID 6188062] Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.


[PMID 7507641] Mild beta+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis.


[PMID 7655036] HLA-DR frequency in Turkish aplastic anemia patients and the impact of HLA-DR2 positivity in response rate in patients receiving immunosuppressive therapy.


[PMID 2018842] Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element.