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rs41479844

From SNPedia

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


Make rs41479844(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173500
GeneHBA2
is asnp
is mentioned by
dbSNPrs41479844
ebirs41479844
HLIrs41479844
Exacrs41479844
Varsomers41479844
Maprs41479844
PheGenIrs41479844
hapmaprs41479844
1000 genomesrs41479844
hgdprs41479844
ensemblrs41479844
gopubmedrs41479844
geneviewrs41479844
scholarrs41479844
googlers41479844
pharmgkbrs41479844
gwascentralrs41479844
openSNPrs41479844
23andMers41479844
23andMe allrs41479844
SNP Nexus

SNPshotrs41479844
SNPdbers41479844
MSV3drs41479844
GWAS Ctlgrs41479844
Max Magnitude3
OMIM141850
Desc
Variant0007
Relatedalso


ClinVar
Risk rs41479844(G;G)
Alt rs41479844(G;G)
Reference rs41479844(T;T)
Significance Other
Disease HEMOGLOBIN SUAN-DOK
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN SUAN-DOK
Reversed 0
HGVS NC_000016.9:g.223499T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016899.1,



[PMID 478977] Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia.


[PMID 2384313] Direct demonstration of the HB Suan-Dok mutation in the alpha 2-globin gene by restriction analysis with Sma I.


[PMID 15481883] Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry.