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rs34817956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;{{{allele2}}}) 3 Alpha-thalassemia allele carrier
Make rs34817956(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position172934
GeneHBA2
is asnp
is mentioned by
dbSNPrs34817956
ebirs34817956
HLIrs34817956
Exacrs34817956
Varsomers34817956
Maprs34817956
PheGenIrs34817956
hapmaprs34817956
1000 genomesrs34817956
hgdprs34817956
ensemblrs34817956
gopubmedrs34817956
geneviewrs34817956
scholarrs34817956
googlers34817956
pharmgkbrs34817956
gwascentralrs34817956
openSNPrs34817956
23andMers34817956
23andMe allrs34817956
SNP Nexus

SNPshotrs34817956
SNPdbers34817956
MSV3drs34817956
GWAS Ctlgrs34817956
Merged fromRs111033607
Max Magnitude3
OMIM141850
Desc
Variant0068
Relatedalso


ClinVar
Risk rs34817956(C,G;C,G)
Alt rs34817956(C,G;C,G)
Reference rs34817956(A;A)
Significance Other
Disease HEMOGLOBIN KUROSAKI
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN KUROSAKI
Reversed 0
HGVS NC_000016.9:g.222933A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016982.1,



[PMID 7558876] Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman.


[PMID 10725765] Molecular characterization of hemoglobins Kurosaki [alpha7 Lys-->Glu], G-Pest [alpha74 Asp-->Asn], Stanleyville-II [alpha78 Asn-->Lys] and J-Rovigo [alpha53 Ala-->Asp].