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rs34438981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34438981(C;C)
Make rs34438981(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254683
GeneHBG2
is asnp
is mentioned by
dbSNPrs34438981
dbSNP (classic)rs34438981
ClinGenrs34438981
ebirs34438981
HLIrs34438981
Exacrs34438981
Gnomadrs34438981
Varsomers34438981
LitVarrs34438981
Maprs34438981
PheGenIrs34438981
Biobankrs34438981
1000 genomesrs34438981
hgdprs34438981
ensemblrs34438981
geneviewrs34438981
scholarrs34438981
googlers34438981
pharmgkbrs34438981
gwascentralrs34438981
openSNPrs34438981
23andMers34438981
SNPshotrs34438981
SNPdbers34438981
MSV3drs34438981
GWAS Ctlgrs34438981
Max Magnitude0
OMIM142250
Desc
Variant0036
Relatedalso
ClinVar
Risk rs34438981(C;C)
Alt rs34438981(C;C)
Reference Rs34438981(T;T)
Significance Other
Disease HEMOGLOBIN F (CATALONIA)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (CATALONIA)
Reversed 1
HGVS NC_000011.9:g.5275913A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016131.1,



[PMID 1706691] Hb F-Catalonia or alpha 2G gamma(2)15(A12)Trp----Arg.