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rs41323248

From SNPedia

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


Make rs41323248(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173229
GeneHBA2
is asnp
is mentioned by
dbSNPrs41323248
ebirs41323248
HLIrs41323248
Exacrs41323248
Varsomers41323248
Maprs41323248
PheGenIrs41323248
hapmaprs41323248
1000 genomesrs41323248
hgdprs41323248
ensemblrs41323248
gopubmedrs41323248
geneviewrs41323248
scholarrs41323248
googlers41323248
pharmgkbrs41323248
gwascentralrs41323248
openSNPrs41323248
23andMers41323248
23andMe allrs41323248
SNP Nexus

SNPshotrs41323248
SNPdbers41323248
MSV3drs41323248
GWAS Ctlgrs41323248
Max Magnitude3
OMIM141850
Desc
Variant0045
Relatedalso


ClinVar
Risk rs41323248(C;C)
Alt rs41323248(C;C)
Reference rs41323248(T;T)
Significance Other
Disease HEMOGLOBIN DARTMOUTH
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN DARTMOUTH
Reversed 0
HGVS NC_000016.9:g.223228T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016955.1,



[PMID 11791870] Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.