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rs34814612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34814612(C;G)
Make rs34814612(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177118
GeneHBA1
is asnp
is mentioned by
dbSNPrs34814612
dbSNP (classic)rs34814612
ClinGenrs34814612
ebirs34814612
HLIrs34814612
Exacrs34814612
Gnomadrs34814612
Varsomers34814612
LitVarrs34814612
Maprs34814612
PheGenIrs34814612
Biobankrs34814612
1000 genomesrs34814612
hgdprs34814612
ensemblrs34814612
geneviewrs34814612
scholarrs34814612
googlers34814612
pharmgkbrs34814612
gwascentralrs34814612
openSNPrs34814612
23andMers34814612
SNPshotrs34814612
SNPdbers34814612
MSV3drs34814612
GWAS Ctlgrs34814612
Max Magnitude0
OMIM141800
Desc
Variant0189
Relatedalso
ClinVar
Risk rs34814612(G;G)
Alt rs34814612(G;G)
Reference Rs34814612(C;C)
Significance Other
Disease HEMOGLOBIN ROANNE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN ROANNE
Reversed 0
HGVS NC_000016.9:g.227117C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017209.2,


[PMID 7811728] Hemoglobin Roanne [alpha 94(G1) Asp-->Glu]: a variant of the alpha 1 beta 2 interface with an unexpected high oxygen affinity.