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rs34151786

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34151786(A;A)
Make rs34151786(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226704
GeneHBB
is asnp
is mentioned by
dbSNPrs34151786
dbSNP (classic)rs34151786
ClinGenrs34151786
ebirs34151786
HLIrs34151786
Exacrs34151786
Gnomadrs34151786
Varsomers34151786
LitVarrs34151786
Maprs34151786
PheGenIrs34151786
Biobankrs34151786
1000 genomesrs34151786
hgdprs34151786
ensemblrs34151786
geneviewrs34151786
scholarrs34151786
googlers34151786
pharmgkbrs34151786
gwascentralrs34151786
openSNPrs34151786
23andMers34151786
SNPshotrs34151786
SNPdbers34151786
MSV3drs34151786
GWAS Ctlgrs34151786
Max Magnitude0
OMIM141900
Desc
Variant0465
Relatedalso


ClinVar
Risk rs34151786(A;A) rs34151786(T;T)
Alt rs34151786(A;A) rs34151786(T;T)
Reference Rs34151786(C;C)
Significance Other
Disease HEMOGLOBIN J (EUROPA)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN J (EUROPA)
Reversed 1
HGVS NC_000011.9:g.5247934G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016819.2,



[PMID 8811317] Hb J-Europa [beta 62(E6)Ala-->Asp]: normal oxygen binding properties in a new variant involving a residue located distal to the heme.