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rs34703519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34703519(A;C)
Make rs34703519(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5253360
GeneHBG2
is asnp
is mentioned by
dbSNPrs34703519
dbSNP (classic)rs34703519
ClinGenrs34703519
ebirs34703519
HLIrs34703519
Exacrs34703519
Gnomadrs34703519
Varsomers34703519
LitVarrs34703519
Maprs34703519
PheGenIrs34703519
Biobankrs34703519
1000 genomesrs34703519
hgdprs34703519
ensemblrs34703519
geneviewrs34703519
scholarrs34703519
googlers34703519
pharmgkbrs34703519
gwascentralrs34703519
openSNPrs34703519
23andMers34703519
SNPshotrs34703519
SNPdbers34703519
MSV3drs34703519
GWAS Ctlgrs34703519
Max Magnitude0
OMIM142250
Desc
Variant0003
Relatedalso
ClinVar
Risk rs34703519(C;C)
Alt rs34703519(C;C)
Reference Rs34703519(A;A)
Significance Other
Disease HEMOGLOBIN F (CALTECH)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (CALTECH)
Reversed 1
HGVS NC_000011.9:g.5274590T>G
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016099.1,


[PMID 6186635] Hemoglobin F-Caltech: alpha 2 G gamma 2 120Lys replaced by Gln.