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rs41479347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs41479347(C;G)
Make rs41479347(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173540
GeneHBA2
is asnp
is mentioned by
dbSNPrs41479347
ebirs41479347
HLIrs41479347
Exacrs41479347
Varsomers41479347
Maprs41479347
PheGenIrs41479347
hapmaprs41479347
1000 genomesrs41479347
hgdprs41479347
ensemblrs41479347
gopubmedrs41479347
geneviewrs41479347
scholarrs41479347
googlers41479347
pharmgkbrs41479347
gwascentralrs41479347
openSNPrs41479347
23andMers41479347
23andMe allrs41479347
SNP Nexus

SNPshotrs41479347
SNPdbers41479347
MSV3drs41479347
GWAS Ctlgrs41479347
Max Magnitude0
OMIM141800
Desc
Variant0156
Relatedalso
ClinVar
Risk rs41479347(G;G)
Alt rs41479347(G;G)
Reference rs41479347(C;C)
Significance Other
Disease HEMOGLOBIN WESTMEAD
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN WESTMEAD
Reversed 0
HGVS NC_000016.9:g.223539C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017178.1,



[PMID 1686260] Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage.


[PMID 1787098] Hb Westmead [alpha 122(H5)His----Gln], Hb E [beta 26(B8)Glu----Lys], and alpha-thalassemia-2 (3.7 Kb deletion) in a Laotian family.


[PMID 6153381] Hemoglobin Westmead alpha 2 122(H5)His replaced by Gln beta 2: a new hemoglobin variant with the substitution in the alpha 1 beta 1 contact area.


[PMID 15182058] Thalassemia intermedia due to co-inheritance of beta0/beta(+)-thalassemia and (- -SEA) alpha-thalassemia/Hb Westmead [alpha122(H5)His > Gln (alpha2)] in a Chinese family.