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rs41341344

From SNPedia

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


Make rs41341344(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173001
GeneHBA2
is asnp
is mentioned by
dbSNPrs41341344
ebirs41341344
HLIrs41341344
Exacrs41341344
Varsomers41341344
Maprs41341344
PheGenIrs41341344
hapmaprs41341344
1000 genomesrs41341344
hgdprs41341344
ensemblrs41341344
gopubmedrs41341344
geneviewrs41341344
scholarrs41341344
googlers41341344
pharmgkbrs41341344
gwascentralrs41341344
openSNPrs41341344
23andMers41341344
23andMe allrs41341344
SNP Nexus

SNPshotrs41341344
SNPdbers41341344
MSV3drs41341344
GWAS Ctlgrs41341344
Max Magnitude3
OMIM141850
Desc
Variant0026
Relatedalso


ClinVar
Risk rs41341344(C;C)
Alt rs41341344(C;C)
Reference rs41341344(T;T)
Significance Other
Disease HEMOGLOBIN AGRINIO Hemoglobin H disease
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN AGRINIO Hemoglobin H disease, nondeletional
Reversed 0
HGVS NC_000016.9:g.223000T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016937.1, RCV000022605.4,



[PMID 8136277] A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.


[PMID 8537235] Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family.


[PMID 9629496] An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant.


[PMID 11042028] Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.