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rs34515413

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34515413(A;A)
Make rs34515413(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226598
GeneHBB
is asnp
is mentioned by
dbSNPrs34515413
ebirs34515413
HLIrs34515413
Exacrs34515413
Varsomers34515413
Maprs34515413
PheGenIrs34515413
hapmaprs34515413
1000 genomesrs34515413
hgdprs34515413
ensemblrs34515413
gopubmedrs34515413
geneviewrs34515413
scholarrs34515413
googlers34515413
pharmgkbrs34515413
gwascentralrs34515413
openSNPrs34515413
23andMers34515413
23andMe allrs34515413
SNP Nexus

SNPshotrs34515413
SNPdbers34515413
MSV3drs34515413
GWAS Ctlgrs34515413
Max Magnitude0
OMIM141900
Desc
Variant0169
Relatedalso
ClinVar
Risk rs34515413(A,G,T;A,G,T)
Alt rs34515413(A,G,T;A,G,T)
Reference rs34515413(C;C)
Significance Other
Disease HEMOGLOBIN MALMO
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MALMO
Reversed 1
HGVS NC_000011.10:g.5226598G>Y
CLNSRC OMIM Allelic Variant
CLNACC RCV000016482.1,


[PMID 36749] Comparison of hemoglobins Wood (alpha 2 beta 2 97 leu) and Malmo (alpha 2 beta 2 97 gln). Diagnostic value of citrate agar electrophoresis.


[PMID 1268084] A hypothesis for the increased oxygen affinity in haemoglobin Malmo.


[PMID 5011106OA-icon.png] Hemoglobin Malmo Beta-97 (FG-4) histidine--glutamine: a cause of polycythemia.


[PMID 8571935] Two different mutations in codon 97 of the beta-globin gene cause Hb Malmo in Sweden.


[PMID 8890707] Hb Malmo [beta-97(FG-4)His-->Gln] leading to polycythemia in a Dutch family.