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rs33951465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
(TG;TG) 0 common in clinvar
Make rs33951465(A;A)
Make rs33951465(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226947
GeneHBB
is asnp
is mentioned by
dbSNPrs33951465
ebirs33951465
HLIrs33951465
Exacrs33951465
Varsomers33951465
Maprs33951465
PheGenIrs33951465
hapmaprs33951465
1000 genomesrs33951465
hgdprs33951465
ensemblrs33951465
gopubmedrs33951465
geneviewrs33951465
scholarrs33951465
googlers33951465
pharmgkbrs33951465
gwascentralrs33951465
openSNPrs33951465
23andMers33951465
23andMe allrs33951465
SNP Nexus

SNPshotrs33951465
SNPdbers33951465
MSV3drs33951465
GWAS Ctlgrs33951465
Max Magnitude0
OMIM141900
Desc
Variant0369
Relatedalso
ClinVar
Risk rs33951465(A,G;A,G)
Alt rs33951465(A,G;A,G)
Reference rs33951465(T;T)
Significance Pathogenic
Disease Beta-plus-thalassemia alpha Thalassemia beta Thalassemia
Variation info
Gene HBB
CLNDBN Beta-plus-thalassemia alpha Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248177A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016717.26, RCV000020339.1, RCV000030002.1,


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


[PMID 2634667] Characterization of beta-thalassemia mutations among the Japanese.


[PMID 6572978OA-icon.png] "Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.


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


[PMID 6583702OA-icon.png] beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.


[PMID 20737602] Molecular characterization of sickle cell anemia in the Northern Brazilian state of Para.