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rs35974739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Alpha-thalassemia allele carrier
(T;T) 0 common in complete genomics


Make rs35974739(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177376
GeneHBA1
is asnp
is mentioned by
dbSNPrs35974739
ebirs35974739
HLIrs35974739
Exacrs35974739
Varsomers35974739
Maprs35974739
PheGenIrs35974739
hapmaprs35974739
1000 genomesrs35974739
hgdprs35974739
ensemblrs35974739
gopubmedrs35974739
geneviewrs35974739
scholarrs35974739
googlers35974739
pharmgkbrs35974739
gwascentralrs35974739
openSNPrs35974739
23andMers35974739
23andMe allrs35974739
SNP Nexus

SNPshotrs35974739
SNPdbers35974739
MSV3drs35974739
GWAS Ctlgrs35974739
Max Magnitude3
OMIM141800
Desc
Variant0167
Relatedalso
ClinVar
Risk rs35974739(C;C)
Alt rs35974739(C;C)
Reference rs35974739(T;T)
Significance Other
Disease HEMOGLOBIN QUESTEMBERT
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN QUESTEMBERT
Reversed 0
HGVS NC_000016.9:g.227375T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017187.2,



[PMID 7717382] Hb Questembert is due to a base substitution (T-->C) in codon 131 of the alpha 2-globin gene and has an alpha-thalassemia biosynthetic ratio.


[PMID 8493987] Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly).