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rs41457746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 3 Alpha-thalassemia allele carrier
Make rs41457746(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173123
GeneHBA2
is asnp
is mentioned by
dbSNPrs41457746
ebirs41457746
HLIrs41457746
Exacrs41457746
Varsomers41457746
Maprs41457746
PheGenIrs41457746
hapmaprs41457746
1000 genomesrs41457746
hgdprs41457746
ensemblrs41457746
gopubmedrs41457746
geneviewrs41457746
scholarrs41457746
googlers41457746
pharmgkbrs41457746
gwascentralrs41457746
openSNPrs41457746
23andMers41457746
23andMe allrs41457746
SNP Nexus

SNPshotrs41457746
SNPdbers41457746
MSV3drs41457746
GWAS Ctlgrs41457746
Max Magnitude3
OMIM141850
Desc
Variant0056
Relatedalso


ClinVar
Risk rs41457746(G;G)
Alt rs41457746(G;G)
Reference rs41457746(A;A)
Significance Pathogenic
Disease Alpha plus thalassemia
Variation info
Gene HBA2
CLNDBN Alpha plus thalassemia
Reversed 0
HGVS NC_000016.9:g.223122A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016968.26,



[PMID 8943885] An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families.