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rs63751417

From SNPedia

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


Make rs63751417(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173565
GeneHBA2
is asnp
is mentioned by
dbSNPrs63751417
ebirs63751417
HLIrs63751417
Exacrs63751417
Varsomers63751417
Maprs63751417
PheGenIrs63751417
hapmaprs63751417
1000 genomesrs63751417
hgdprs63751417
ensemblrs63751417
gopubmedrs63751417
geneviewrs63751417
scholarrs63751417
googlers63751417
pharmgkbrs63751417
gwascentralrs63751417
openSNPrs63751417
23andMers63751417
23andMe allrs63751417
SNP Nexus

SNPshotrs63751417
SNPdbers63751417
MSV3drs63751417
GWAS Ctlgrs63751417
Max Magnitude3
OMIM141800
Desc
Variant0167
Relatedalso


ClinVar
Risk rs63751417(C;C)
Alt rs63751417(C;C)
Reference rs63751417(T;T)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223564T>C
CLNSRC
CLNACC



[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).