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rs34937014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common in complete genomics
Make rs34937014(-;A)
Make rs34937014(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226604
GeneHBB
is asnp
is mentioned by
dbSNPrs34937014
ebirs34937014
HLIrs34937014
Exacrs34937014
Varsomers34937014
Maprs34937014
PheGenIrs34937014
hapmaprs34937014
1000 genomesrs34937014
hgdprs34937014
ensemblrs34937014
gopubmedrs34937014
geneviewrs34937014
scholarrs34937014
googlers34937014
pharmgkbrs34937014
gwascentralrs34937014
openSNPrs34937014
23andMers34937014
23andMe allrs34937014
SNP Nexus

SNPshotrs34937014
SNPdbers34937014
MSV3drs34937014
GWAS Ctlgrs34937014
Max Magnitude0
ClinVar
Risk rs34937014(A;A)
Alt rs34937014(A;A)
Reference rs34937014(;)
Significance Probable-Pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247835dupT
CLNSRC HBVAR
CLNACC RCV000029975.1,



[PMID 1515453] Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease.