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rs34980264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34980264(A;A)
Make rs34980264(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225621
GeneHBB
is asnp
is mentioned by
dbSNPrs34980264
ebirs34980264
HLIrs34980264
Exacrs34980264
Varsomers34980264
Maprs34980264
PheGenIrs34980264
hapmaprs34980264
1000 genomesrs34980264
hgdprs34980264
ensemblrs34980264
gopubmedrs34980264
geneviewrs34980264
scholarrs34980264
googlers34980264
pharmgkbrs34980264
gwascentralrs34980264
openSNPrs34980264
23andMers34980264
23andMe allrs34980264
SNP Nexus

SNPshotrs34980264
SNPdbers34980264
MSV3drs34980264
GWAS Ctlgrs34980264
Max Magnitude0
OMIM141900
Desc
Variant0249
Relatedalso


ClinVar
Risk rs34980264(A;A)
Alt rs34980264(A;A)
Reference rs34980264(G;G)
Significance Other
Disease HEMOGLOBIN SAINT JACQUES
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SAINT JACQUES
Reversed 1
HGVS NC_000011.9:g.5246851C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016582.2,



[PMID 6546525] Structure and function of Hb Saint-Jacques (alpha 2 beta 2 140 (H18) Ala----Thr): a new high-oxygen-affinity variant with altered bisphosphoglycerate binding.