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rs34974709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34974709(A;T)
Make rs34974709(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226707
GeneHBB
is asnp
is mentioned by
dbSNPrs34974709
dbSNP (classic)rs34974709
ClinGenrs34974709
ebirs34974709
HLIrs34974709
Exacrs34974709
Gnomadrs34974709
Varsomers34974709
LitVarrs34974709
Maprs34974709
PheGenIrs34974709
Biobankrs34974709
1000 genomesrs34974709
hgdprs34974709
ensemblrs34974709
geneviewrs34974709
scholarrs34974709
googlers34974709
pharmgkbrs34974709
gwascentralrs34974709
openSNPrs34974709
23andMers34974709
SNPshotrs34974709
SNPdbers34974709
MSV3drs34974709
GWAS Ctlgrs34974709
Max Magnitude0
OMIM141900
Desc
Variant0024
Relatedalso


ClinVar
Risk rs34974709(T;T)
Alt rs34974709(T;T)
Reference Rs34974709(A;A)
Significance Other
Disease HEMOGLOBIN BOLOGNA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BOLOGNA
Reversed 1
HGVS NC_000011.9:g.5247937T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016269.2,



[PMID 7225407] Hemoglobin bologna (alpha 2 beta 2 61 (E5) lys replaced by met). An abnormal human hemoglobin with low oxygen affinity.