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rs41530750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs41530750(G;T)
Make rs41530750(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position176800
GeneHBA1
is asnp
is mentioned by
dbSNPrs41530750
ebirs41530750
HLIrs41530750
Exacrs41530750
Varsomers41530750
Maprs41530750
PheGenIrs41530750
hapmaprs41530750
1000 genomesrs41530750
hgdprs41530750
ensemblrs41530750
gopubmedrs41530750
geneviewrs41530750
scholarrs41530750
googlers41530750
pharmgkbrs41530750
gwascentralrs41530750
openSNPrs41530750
23andMers41530750
23andMe allrs41530750
SNP Nexus

SNPshotrs41530750
SNPdbers41530750
MSV3drs41530750
GWAS Ctlgrs41530750
Max Magnitude0
OMIM141800
Desc
Variant0051
Relatedalso
ClinVar
Risk rs41530750(A,C,T;A,C,T)
Alt rs41530750(A,C,T;A,C,T)
Reference rs41530750(G;G)
Significance Other
Disease HEMOGLOBIN HEKINAN
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN HEKINAN
Reversed 0
HGVS NC_000016.9:g.226799G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017047.2,


[PMID 1983218] Hb Hekinan observed in three Chinese from Macau; identification of the GAG----GAT mutation in the alpha 1-globin gene.


[PMID 2753738] Hemoglobin Hekinan [alpha (2)27(B8)Glu----Asp beta 2] detected in Guyana.


[PMID 3384699] An electrophoretically silent hemoglobin variant, Hb Hekinan [alpha 27(B8)Glu----Asp] found in a Japanese.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.


[PMID 15182057] Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)Glu-->Asp (alpha1)] and alpha-thalassemia in Thailand.