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rs34716011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs34716011(A;A)
Make rs34716011(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226974
GeneHBB
is asnp
is mentioned by
dbSNPrs34716011
ebirs34716011
HLIrs34716011
Exacrs34716011
Varsomers34716011
Maprs34716011
PheGenIrs34716011
hapmaprs34716011
1000 genomesrs34716011
hgdprs34716011
ensemblrs34716011
gopubmedrs34716011
geneviewrs34716011
scholarrs34716011
googlers34716011
pharmgkbrs34716011
gwascentralrs34716011
openSNPrs34716011
23andMers34716011
23andMe allrs34716011
SNP Nexus

SNPshotrs34716011
SNPdbers34716011
MSV3drs34716011
GWAS Ctlgrs34716011
Max Magnitude0
OMIM141900
Desc
Variant0313
Relatedalso


ClinVar
Risk rs34716011(A;A)
Alt rs34716011(A;A)
Reference rs34716011(G;G)
Significance Untested
Disease
Variation info
Gene HBB
CLNDBN
Reversed 1
HGVS NC_000011.9:g.5248204C>T
CLNSRC GTR HBVAR
CLNACC



[PMID 1428946] Hb Shelby [alpha 2 beta 2(131)(H9)Gln----Lys]-beta zero-thalassemia [codon 15 (TGG----TGA)] identified by DNA sequencing.


[PMID 1581247] A novel beta zero-thalassaemia mutation (codon 15, TGG----TGA) is prevalent in a population of central Portugal.