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rs34907654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34907654(C;C)
Make rs34907654(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254680
GeneHBG2
is asnp
is mentioned by
dbSNPrs34907654
ClinGenrs34907654
ebirs34907654
HLIrs34907654
Exacrs34907654
Varsomers34907654
Maprs34907654
PheGenIrs34907654
hapmaprs34907654
1000 genomesrs34907654
hgdprs34907654
ensemblrs34907654
gopubmedrs34907654
geneviewrs34907654
scholarrs34907654
googlers34907654
pharmgkbrs34907654
gwascentralrs34907654
openSNPrs34907654
23andMers34907654
23andMe allrs34907654
SNP Nexus

SNPshotrs34907654
SNPdbers34907654
MSV3drs34907654
GWAS Ctlgrs34907654
Max Magnitude0
OMIM142250
Desc
Variant0017
Relatedalso
ClinVar
Risk rs34907654(C;C)
Alt rs34907654(C;C)
Reference Rs34907654(G;G)
Significance Other
Disease HEMOGLOBIN F (MELBOURNE)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (MELBOURNE)
Reversed 1
HGVS NC_000011.9:g.5275910C>G
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016113.1,



[PMID 836882] Haemoglobin F Melbourne Ggamma 16 Gly leads to Arg and haemoglobin F carlton Ggamma 121 Glu leads to Lys. Further evidence for varied activity of gamma-chain genes.