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rs41529844

From SNPedia

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


Make rs41529844(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173562
GeneHBA2
is asnp
is mentioned by
dbSNPrs41529844
ebirs41529844
HLIrs41529844
Exacrs41529844
Varsomers41529844
Maprs41529844
PheGenIrs41529844
hapmaprs41529844
1000 genomesrs41529844
hgdprs41529844
ensemblrs41529844
gopubmedrs41529844
geneviewrs41529844
scholarrs41529844
googlers41529844
pharmgkbrs41529844
gwascentralrs41529844
openSNPrs41529844
23andMers41529844
23andMe allrs41529844
SNP Nexus

SNPshotrs41529844
SNPdbers41529844
MSV3drs41529844
GWAS Ctlgrs41529844
Max Magnitude3
OMIM141850
Desc
Variant0017
Relatedalso
ClinVar
Risk rs41529844(C;C)
Alt rs41529844(C;C)
Reference rs41529844(G;G)
Significance Other
Disease HEMOGLOBIN SUN PRAIRIE
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN SUN PRAIRIE
Reversed 0
HGVS NC_000016.9:g.223561G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016926.1,


[PMID 2079430] Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2, a new unstable variant occurring in low quantities.


[PMID 2079431] Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2; second observation in an Indian adult.


[PMID 8811313] Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies.