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rs41469945

From SNPedia

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


Make rs41469945(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173581
GeneHBA2
is asnp
is mentioned by
dbSNPrs41469945
ebirs41469945
HLIrs41469945
Exacrs41469945
Varsomers41469945
Maprs41469945
PheGenIrs41469945
hapmaprs41469945
1000 genomesrs41469945
hgdprs41469945
ensemblrs41469945
gopubmedrs41469945
geneviewrs41469945
scholarrs41469945
googlers41469945
pharmgkbrs41469945
gwascentralrs41469945
openSNPrs41469945
23andMers41469945
23andMe allrs41469945
SNP Nexus

SNPshotrs41469945
SNPdbers41469945
MSV3drs41469945
GWAS Ctlgrs41469945
Max Magnitude3
OMIM141800
Desc
Variant0152
Relatedalso
OMIM141850
Desc
Variant0030
Relatedalso


ClinVar
Risk rs41469945(C,G;C,G)
Alt rs41469945(C,G;C,G)
Reference rs41469945(T;T)
Significance Pathogenic
Disease Heinz body anemia
Variation info
Gene HBA2
CLNDBN Heinz body anemia
Reversed 0
HGVS NC_000016.9:g.223580T>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000203221.2,



[PMID 5440849] Subunit dissociation of the unstable hemoglobin Bibba (alpha 2-136Pro(H19)beta 2).


[PMID 5639009] Hemoglobin-Bibba or alpha-2-136Pro-beta 2, an unstable alpha chain abnormal hemoglobin.


[PMID 7558871] Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama.


[PMID 2833478] Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids.