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rs34579351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34579351(A;G)
Make rs34579351(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226608
GeneHBB
is asnp
is mentioned by
dbSNPrs34579351
dbSNP (classic)rs34579351
ClinGenrs34579351
ebirs34579351
HLIrs34579351
Exacrs34579351
Gnomadrs34579351
Varsomers34579351
LitVarrs34579351
Maprs34579351
PheGenIrs34579351
Biobankrs34579351
1000 genomesrs34579351
hgdprs34579351
ensemblrs34579351
geneviewrs34579351
scholarrs34579351
googlers34579351
pharmgkbrs34579351
gwascentralrs34579351
openSNPrs34579351
23andMers34579351
SNPshotrs34579351
SNPdbers34579351
MSV3drs34579351
GWAS Ctlgrs34579351
Max Magnitude0
OMIM141900
Desc
Variant0045
Relatedalso


ClinVar
Risk rs34579351(G;G)
Alt rs34579351(G;G)
Reference Rs34579351(A;A)
Significance Other
Disease HEMOGLOBIN CHANDIGARH
Variation info
Gene HBB
CLNDBN HEMOGLOBIN CHANDIGARH
Reversed 1
HGVS NC_000011.9:g.5247838T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016296.2,



[PMID 2634672] Hb Chandigarh or alpha 2 beta 2(94)(FG1)Asp----Gly observed in an Indian family.


[PMID 15481898] Late emergence of polycythemia in a case of Hb Chandigarh [beta94(FG1)Asp-->Gly].