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rs34013622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34013622(A;A)
Make rs34013622(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226592
GeneHBB
is asnp
is mentioned by
dbSNPrs34013622
dbSNP (classic)rs34013622
ClinGenrs34013622
ebirs34013622
HLIrs34013622
Exacrs34013622
Gnomadrs34013622
Varsomers34013622
LitVarrs34013622
Maprs34013622
PheGenIrs34013622
Biobankrs34013622
1000 genomesrs34013622
hgdprs34013622
ensemblrs34013622
geneviewrs34013622
scholarrs34013622
googlers34013622
pharmgkbrs34013622
gwascentralrs34013622
openSNPrs34013622
23andMers34013622
SNPshotrs34013622
SNPdbers34013622
MSV3drs34013622
GWAS Ctlgrs34013622
Max Magnitude0
OMIM141900
Desc
Variant0405
Relatedalso
ClinVar
Risk rs34013622(A;A) rs34013622(G;G)
Alt rs34013622(A;A) rs34013622(G;G)
Reference Rs34013622(T;T)
Significance Other
Disease HEMOGLOBIN COIMBRA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN COIMBRA
Reversed 1
HGVS NC_000011.10:g.5226592A>Y
CLNSRC OMIM Allelic Variant
CLNACC RCV000016757.1,


[PMID 1814856] Hb Coimbra or alpha 2 beta (2)99(G1)Asp----Glu, a newly discovered highoxygen affinity variant.