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rs34451549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) Normal
(T;T) 3.5 Transfusion-dependent thalassemia major
(C;T) 0
ReferenceGRCh38 38.1/141
Chromosome11
Position5225923
GeneHBB
is asnp
is mentioned by
dbSNPrs34451549
ebirs34451549
HLIrs34451549
Exacrs34451549
Varsomers34451549
Maprs34451549
PheGenIrs34451549
hapmaprs34451549
1000 genomesrs34451549
hgdprs34451549
ensemblrs34451549
gopubmedrs34451549
geneviewrs34451549
scholarrs34451549
googlers34451549
pharmgkbrs34451549
gwascentralrs34451549
openSNPrs34451549
23andMers34451549
23andMe allrs34451549
SNP Nexus

SNPshotrs34451549
SNPdbers34451549
MSV3drs34451549
GWAS Ctlgrs34451549
Max Magnitude3.5

Beta Thalassemia https://www.23andme.com/you/journal/beta_thalassemia/techreport/


ClinVar
Risk rs34451549(T;T)
Alt rs34451549(T;T)
Reference rs34451549(C;C)
Significance Pathogenic
Disease beta^0^ Thalassemia alpha Thalassemia Beta thalassemia major
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia alpha Thalassemia Beta thalassemia major
Reversed 1
HGVS NC_000011.9:g.5247153G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016716.26, RCV000020334.1, RCV000029984.1,



[PMID 1850955] A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.

[PMID 2014803OA-icon.png] The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation.

[PMID 2875755] The spectrum of beta-thalassemia genes in China and Southeast Asia.

[PMID 6585831OA-icon.png] beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

[PMID 8435318] Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient.