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rs34492931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34492931(A;G)
Make rs34492931(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176954
GeneHBA1
is asnp
is mentioned by
dbSNPrs34492931
ebirs34492931
HLIrs34492931
Exacrs34492931
Varsomers34492931
Maprs34492931
PheGenIrs34492931
hapmaprs34492931
1000 genomesrs34492931
hgdprs34492931
ensemblrs34492931
gopubmedrs34492931
geneviewrs34492931
scholarrs34492931
googlers34492931
pharmgkbrs34492931
gwascentralrs34492931
openSNPrs34492931
23andMers34492931
23andMe allrs34492931
SNP Nexus

SNPshotrs34492931
SNPdbers34492931
MSV3drs34492931
GWAS Ctlgrs34492931
Max Magnitude0
OMIM141800
Desc
Variant0081
Relatedalso
ClinVar
Risk rs34492931(G;G)
Alt rs34492931(G;G)
Reference rs34492931(A;A)
Significance Other
Disease HEMOGLOBIN KARIYA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN KARIYA
Reversed 0
HGVS NC_000016.9:g.226953A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017079.3,


[PMID 2500435] Structure-function relationships in hemoglobin Kariya, Lys-40(C5) alpha----Glu, with high oxygen affinity. Functional role of the salt bridge between Lys-40 alpha and the beta chain COOH terminus.


[PMID 6137414] Hemoglobin Kariya [alpha 40 (C5) Lys leads to Glu]: a new hemoglobin variant with an increased oxygen affinity.


[PMID 6480362] Hemoglobin Kariya or alpha 240(C5)Lys----Glu beta 2 in a Caucasian family from South Carolina.