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rs34532478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34532478(A;G)
Make rs34532478(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254486
GeneHBG2
is asnp
is mentioned by
dbSNPrs34532478
dbSNP (classic)rs34532478
ClinGenrs34532478
ebirs34532478
HLIrs34532478
Exacrs34532478
Gnomadrs34532478
Varsomers34532478
LitVarrs34532478
Maprs34532478
PheGenIrs34532478
Biobankrs34532478
1000 genomesrs34532478
hgdprs34532478
ensemblrs34532478
geneviewrs34532478
scholarrs34532478
googlers34532478
pharmgkbrs34532478
gwascentralrs34532478
openSNPrs34532478
23andMers34532478
SNPshotrs34532478
SNPdbers34532478
MSV3drs34532478
GWAS Ctlgrs34532478
Max Magnitude0
OMIM142250
Desc
Variant0044
Relatedalso
ClinVar
Risk rs34532478(G;G)
Alt rs34532478(G;G)
Reference Rs34532478(A;A)
Significance Other
Disease HEMOGLOBIN F (VELETA)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (VELETA)
Reversed 1
HGVS NC_000011.9:g.5275716T>C
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016139.2,



[PMID 8718700] Hb F-Veleta or alpha 2 G gamma(2)40(C6)Arg-->Gly.