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rs34933455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34933455(C;C)
Make rs34933455(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226705
GeneHBB
is asnp
is mentioned by
dbSNPrs34933455
dbSNP (classic)rs34933455
ClinGenrs34933455
ebirs34933455
HLIrs34933455
Exacrs34933455
Gnomadrs34933455
Varsomers34933455
LitVarrs34933455
Maprs34933455
PheGenIrs34933455
Biobankrs34933455
1000 genomesrs34933455
hgdprs34933455
ensemblrs34933455
geneviewrs34933455
scholarrs34933455
googlers34933455
pharmgkbrs34933455
gwascentralrs34933455
openSNPrs34933455
23andMers34933455
SNPshotrs34933455
SNPdbers34933455
MSV3drs34933455
GWAS Ctlgrs34933455
Max Magnitude0
OMIM141900
Desc
Variant0070
Relatedalso


ClinVar
Risk rs34933455(C;C)
Alt rs34933455(C;C)
Reference Rs34933455(G;G)
Significance Other
Disease HEMOGLOBIN DUARTE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN DUARTE
Reversed 1
HGVS NC_000011.9:g.5247935C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016328.2,



[PMID 4361395] Hemoglobin Duarte: (alpha2beta2 62(E6)Ala leads to Pro): a new unstable hemoglobin with increased oxygen affinity.