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rs41361546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs41361546(A;G)
Make rs41361546(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position173589
GeneHBA2
is asnp
is mentioned by
dbSNPrs41361546
dbSNP (classic)rs41361546
ClinGenrs41361546
ebirs41361546
HLIrs41361546
Exacrs41361546
Gnomadrs41361546
Varsomers41361546
LitVarrs41361546
Maprs41361546
PheGenIrs41361546
Biobankrs41361546
1000 genomesrs41361546
hgdprs41361546
ensemblrs41361546
geneviewrs41361546
scholarrs41361546
googlers41361546
pharmgkbrs41361546
gwascentralrs41361546
openSNPrs41361546
23andMers41361546
SNPshotrs41361546
SNPdbers41361546
MSV3drs41361546
GWAS Ctlgrs41361546
Max Magnitude0
OMIM141850
Desc
Variant0023
Relatedalso


ClinVar
Risk rs41361546(G;G)
Alt rs41361546(G;G)
Reference Rs41361546(A;A)
Significance Other
Disease HEMOGLOBIN HANAMAKI
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN HANAMAKI
Reversed 0
HGVS NC_000016.9:g.223588A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016932.1,



[PMID 7928378] A second case of Hb Hanamaki [alpha 2 139(HC1)Lys->Glu beta 2] in an American family with erythrocytosis.