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rs33978907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
(TA;TA) 0 common in clinvar
Make rs33978907(C;C)
Make rs33978907(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225488
GeneHBB
is asnp
is mentioned by
dbSNPrs33978907
ebirs33978907
HLIrs33978907
Exacrs33978907
Varsomers33978907
Maprs33978907
PheGenIrs33978907
hapmaprs33978907
1000 genomesrs33978907
hgdprs33978907
ensemblrs33978907
gopubmedrs33978907
geneviewrs33978907
scholarrs33978907
googlers33978907
pharmgkbrs33978907
gwascentralrs33978907
openSNPrs33978907
23andMers33978907
23andMe allrs33978907
SNP Nexus

SNPshotrs33978907
SNPdbers33978907
MSV3drs33978907
GWAS Ctlgrs33978907
Max Magnitude0
OMIM141900
Desc
Variant0382
Relatedalso
ClinVar
Risk rs33978907(A,C;A,C)
Alt rs33978907(A,C;A,C)
Reference rs33978907(T;T)
Significance Pathogenic
Disease Beta thalassemia intermedia
Variation info
Gene HBB
CLNDBN Beta thalassemia intermedia
Reversed 1
HGVS NC_000011.9:g.5246718A>G
CLNSRC ClinVar GTR
CLNACC RCV000030000.1,


[PMID 1787101] A mild thalassemia major resulting from a compound heterozygosity for the IVS-II-1 (G----A) mutation and the rare T----C mutation at the polyadenylation site.


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


[PMID 4018033OA-icon.png] Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene.


[PMID 12709369] Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.


[PMID 15315795] Impact of beta globin gene mutations on the clinical phenotype of beta thalassemia in India.


[PMID 21119755OA-icon.png] Profiling beta-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.