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rs34432567

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34432567(A;G)
Make rs34432567(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5249785
GeneHBG1
is asnp
is mentioned by
dbSNPrs34432567
ebirs34432567
HLIrs34432567
Exacrs34432567
Varsomers34432567
Maprs34432567
PheGenIrs34432567
hapmaprs34432567
1000 genomesrs34432567
hgdprs34432567
ensemblrs34432567
gopubmedrs34432567
geneviewrs34432567
scholarrs34432567
googlers34432567
pharmgkbrs34432567
gwascentralrs34432567
openSNPrs34432567
23andMers34432567
23andMe allrs34432567
SNP Nexus

SNPshotrs34432567
SNPdbers34432567
MSV3drs34432567
GWAS Ctlgrs34432567
Max Magnitude0
OMIM142200
Desc
Variant0012
Relatedalso
ClinVar
Risk rs34432567(G;G)
Alt rs34432567(G;G)
Reference rs34432567(A;A)
Significance Other
Disease HEMOGLOBIN F (IZUMI) HEMOGLOBIN F (KOTOBUKI)
Variation info
Gene HBG1
CLNDBN HEMOGLOBIN F (IZUMI) HEMOGLOBIN F (KOTOBUKI)
Reversed 1
HGVS NC_000011.9:g.5271015T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016156.1, RCV000030903.1,



[PMID 6175602] A new gamma chain variant, HB F Kotobuki or AI gamma 6 (A3) Glu leads to Gly.


[PMID 6197997] Characterization of a new fetal hemoglobin variant, Hb F Izumi A gamma 6Glu replaced by Gly, by molecular secondary ion mass spectrometry.