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rs34362537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34362537(C;C)
Make rs34362537(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226677
GeneHBB
is asnp
is mentioned by
dbSNPrs34362537
dbSNP (classic)rs34362537
ClinGenrs34362537
ebirs34362537
HLIrs34362537
Exacrs34362537
Gnomadrs34362537
Varsomers34362537
LitVarrs34362537
Maprs34362537
PheGenIrs34362537
Biobankrs34362537
1000 genomesrs34362537
hgdprs34362537
ensemblrs34362537
geneviewrs34362537
scholarrs34362537
googlers34362537
pharmgkbrs34362537
gwascentralrs34362537
openSNPrs34362537
23andMers34362537
SNPshotrs34362537
SNPdbers34362537
MSV3drs34362537
GWAS Ctlgrs34362537
Max Magnitude0
OMIM141900
Desc
Variant0049
Relatedalso


ClinVar
Risk rs34362537(C;C)
Alt rs34362537(C;C)
Reference Rs34362537(T;T)
Significance Other
Disease HEMOGLOBIN CHRISTCHURCH
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CHRISTCHURCH
Reversed 1
HGVS NC_000011.9:g.5247907A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016300.3,



[PMID 3841344] An example of Hb Christchurch in Japan. Identification by high-performance liquid chromatography.


[PMID 5559958] A new approach to haemoglobin variant identification. Haemoglobin Christchurch beta-71 (E15) phenylalanine leads to serine.