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rs33945777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs33945777(A;A)
Make rs33945777(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226576
GeneHBB
is asnp
is mentioned by
dbSNPrs33945777
ebirs33945777
HLIrs33945777
Exacrs33945777
Varsomers33945777
Maprs33945777
PheGenIrs33945777
hapmaprs33945777
1000 genomesrs33945777
hgdprs33945777
ensemblrs33945777
gopubmedrs33945777
geneviewrs33945777
scholarrs33945777
googlers33945777
pharmgkbrs33945777
gwascentralrs33945777
openSNPrs33945777
23andMers33945777
23andMe allrs33945777
SNP Nexus

SNPshotrs33945777
SNPdbers33945777
MSV3drs33945777
GWAS Ctlgrs33945777
Max Magnitude0
ClinVar
Risk rs33945777(A,C,T;A,C,T)
Alt rs33945777(A,C,T;A,C,T)
Reference rs33945777(G;G)
Significance Pathogenic
Disease beta Thalassemia beta^0^ Thalassemia alpha Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia beta^0^ Thalassemia alpha Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247806C>G; NC_000011.9:g.5247806C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000169544.1, RCV000016696.26, RCV000020332.1,



[PMID 1634368] Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG).


[PMID 1702403] Intrinsic potential for high fetal hemoglobin production in a Druz family with beta-thalassemia is due to an unlinked genetic determinant.


[PMID 2200760] Beta-thalassemia in Turkey.


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


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


[PMID 7151176] A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.


[PMID 7504400] Polymorphic pattern of the (AT)X(T)Y motif at -530 5' to the beta-globin gene in over 40 patients homozygous for various beta-thalassemia mutations.


[PMID 8718703] Molecular analyses of beta-thalassemia in Iran.