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rs34769005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34769005(C;G)
Make rs34769005(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227005
GeneHBB
is asnp
is mentioned by
dbSNPrs34769005
dbSNP (classic)rs34769005
ClinGenrs34769005
ebirs34769005
HLIrs34769005
Exacrs34769005
Gnomadrs34769005
Varsomers34769005
LitVarrs34769005
Maprs34769005
PheGenIrs34769005
Biobankrs34769005
1000 genomesrs34769005
hgdprs34769005
ensemblrs34769005
geneviewrs34769005
scholarrs34769005
googlers34769005
pharmgkbrs34769005
gwascentralrs34769005
openSNPrs34769005
23andMers34769005
SNPshotrs34769005
SNPdbers34769005
MSV3drs34769005
GWAS Ctlgrs34769005
Max Magnitude0
OMIM141900
Desc
Variant0296
Relatedalso


ClinVar
Risk rs34769005(G;G) rs34769005(T;T)
Alt rs34769005(G;G) rs34769005(T;T)
Reference Rs34769005(C;C)
Significance Other
Disease HEMOGLOBIN WARWICKSHIRE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN WARWICKSHIRE
Reversed 1
HGVS NC_000011.9:g.5248235G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016640.2,



[PMID 6548451] Haemoglobin Warwickshire (beta 5 [A2] Pro----Arg). A possible 'fine tuning' of 2,3-DPG affinity by beta 5 Pro.