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rs63750708

From SNPedia

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


Make rs63750708(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173569
GeneHBA2
is asnp
is mentioned by
dbSNPrs63750708
ebirs63750708
HLIrs63750708
Exacrs63750708
Varsomers63750708
Maprs63750708
PheGenIrs63750708
hapmaprs63750708
1000 genomesrs63750708
hgdprs63750708
ensemblrs63750708
gopubmedrs63750708
geneviewrs63750708
scholarrs63750708
googlers63750708
pharmgkbrs63750708
gwascentralrs63750708
openSNPrs63750708
23andMers63750708
23andMe allrs63750708
SNP Nexus

SNPshotrs63750708
SNPdbers63750708
MSV3drs63750708
GWAS Ctlgrs63750708
Max Magnitude3
OMIM141800
Desc
Variant0178
Relatedalso


ClinVar
Risk rs63750708(G;G)
Alt rs63750708(G;G)
Reference rs63750708(T;T)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223568T>G
CLNSRC
CLNACC



[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).