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rs34809449

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34809449(C;G)
Make rs34809449(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254895
GeneHBG2
is asnp
is mentioned by
dbSNPrs34809449
ebirs34809449
HLIrs34809449
Exacrs34809449
Varsomers34809449
Maprs34809449
PheGenIrs34809449
hapmaprs34809449
1000 genomesrs34809449
hgdprs34809449
ensemblrs34809449
gopubmedrs34809449
geneviewrs34809449
scholarrs34809449
googlers34809449
pharmgkbrs34809449
gwascentralrs34809449
openSNPrs34809449
23andMers34809449
23andMe allrs34809449
SNP Nexus

SNPshotrs34809449
SNPdbers34809449
MSV3drs34809449
GWAS Ctlgrs34809449
Max Magnitude0
OMIM142200
Desc
Variant0031
Relatedalso
OMIM142250
Desc
Variant0035
Relatedalso
OMIM142250
Desc
Variant0046
Relatedalso
ClinVar
Risk rs34809449(A,G,T;A,G,T)
Alt rs34809449(A,G,T;A,G,T)
Reference rs34809449(C;C)
Significance Pathogenic
Disease Fetal hemoglobin quantitative trait locus 1
Variation info
Gene HBG2
CLNDBN Fetal hemoglobin quantitative trait locus 1
Reversed 1
HGVS NC_000011.9:g.5276125G>A; NC_000011.9:g.5276125G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016130.25, RCV000016141.26,


[PMID 7516698] The Australian type of nondeletional G gamma-HPFH has a C-->G substitution at nucleotide -114 of the G gamma gene.


[PMID 1698280OA-icon.png] A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression.


[PMID 10335983] A novel C-->A transversion within the distal CCAAT motif of the Ggamma-globin gene in the Algerian Ggammabeta+-hereditary persistence of fetal hemoglobin.