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rs34831026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34831026(A;A)
Make rs34831026(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226770
GeneHBB
is asnp
is mentioned by
dbSNPrs34831026
ebirs34831026
HLIrs34831026
Exacrs34831026
Varsomers34831026
Maprs34831026
PheGenIrs34831026
hapmaprs34831026
1000 genomesrs34831026
hgdprs34831026
ensemblrs34831026
gopubmedrs34831026
geneviewrs34831026
scholarrs34831026
googlers34831026
pharmgkbrs34831026
gwascentralrs34831026
openSNPrs34831026
23andMers34831026
23andMe allrs34831026
SNP Nexus

SNPshotrs34831026
SNPdbers34831026
MSV3drs34831026
GWAS Ctlgrs34831026
Max Magnitude0
OMIM141900
Desc
Variant0011
Relatedalso


ClinVar
Risk rs34831026(A,T;A,T)
Alt rs34831026(A,T;A,T)
Reference rs34831026(G;G)
Significance Other
Disease HEMOGLOBIN ATHENS-GEORGIA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN ATHENS-GEORGIA
Reversed 1
HGVS NC_000011.9:g.5248000C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016252.3,



[PMID 8114] Hemoglobin Athens-Georgia, or alpha 2 beta 2 40(C6)Arg replaced by Lys, a hemoglobin variant with an increased oxygen affinity.


[PMID 14597] Hemoglobins Austin and Waco: two hemoglobins with substitutions in the alpha 1 beta 2 contact region.