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rs41491146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs41491146(C;G)
Make rs41491146(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173161
GeneHBA2
is asnp
is mentioned by
dbSNPrs41491146
ebirs41491146
HLIrs41491146
Exacrs41491146
Varsomers41491146
Maprs41491146
PheGenIrs41491146
hapmaprs41491146
1000 genomesrs41491146
hgdprs41491146
ensemblrs41491146
gopubmedrs41491146
geneviewrs41491146
scholarrs41491146
googlers41491146
pharmgkbrs41491146
gwascentralrs41491146
openSNPrs41491146
23andMers41491146
23andMe allrs41491146
SNP Nexus

SNPshotrs41491146
SNPdbers41491146
MSV3drs41491146
GWAS Ctlgrs41491146
Max Magnitude0
OMIM141800
Desc
Variant0052
Relatedalso
ClinVar
Risk rs41491146(G;G)
Alt rs41491146(G;G)
Reference rs41491146(C;C)
Significance Other
Disease HEMOGLOBIN HIROSAKI
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN HIROSAKI
Reversed 0
HGVS NC_000016.9:g.223160C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017048.1,



[PMID 701086] Further studies on hemoglobin Hirosaki: demonstration of its presence at low concentration.


[PMID 1182166] Hemoglobin Hirosaki (alpha 43 [CE 1] Phe replaced by Leu), a new unstable variant.


[PMID 1954347] Further cases of Hb Hirosaki in two Japanese families.