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rs34269448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34269448(C;C)
Make rs34269448(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176975
GeneHBA1
is asnp
is mentioned by
dbSNPrs34269448
dbSNP (classic)rs34269448
ClinGenrs34269448
ebirs34269448
HLIrs34269448
Exacrs34269448
Gnomadrs34269448
Varsomers34269448
LitVarrs34269448
Maprs34269448
PheGenIrs34269448
Biobankrs34269448
1000 genomesrs34269448
hgdprs34269448
ensemblrs34269448
geneviewrs34269448
scholarrs34269448
googlers34269448
pharmgkbrs34269448
gwascentralrs34269448
openSNPrs34269448
23andMers34269448
SNPshotrs34269448
SNPdbers34269448
MSV3drs34269448
GWAS Ctlgrs34269448
Max Magnitude0
OMIM141800
Desc
Variant0005
Relatedalso
OMIM141850
Desc
Variant0012
Relatedalso
OMIM141850
Desc
Variant0025
Relatedalso
ClinVar
Risk rs34269448(A;A) rs34269448(C;C) rs34269448(T;T)
Alt rs34269448(A;A) rs34269448(C;C) rs34269448(T;T)
Reference Rs34269448(G;G)
Significance Other
Disease HEMOGLOBIN ARYA
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN ARYA
Reversed 0
HGVS NC_000016.9:g.226974G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016991.2,


[PMID 1138883] Haemoglobin Arya: alpha 2-47 (CD5), aspartic acid yields asparagine.