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rs34018799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34018799(A;A)
Make rs34018799(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254669
GeneHBG2
is asnp
is mentioned by
dbSNPrs34018799
dbSNP (classic)rs34018799
ClinGenrs34018799
ebirs34018799
HLIrs34018799
Exacrs34018799
Gnomadrs34018799
Varsomers34018799
LitVarrs34018799
Maprs34018799
PheGenIrs34018799
Biobankrs34018799
1000 genomesrs34018799
hgdprs34018799
ensemblrs34018799
geneviewrs34018799
scholarrs34018799
googlers34018799
pharmgkbrs34018799
gwascentralrs34018799
openSNPrs34018799
23andMers34018799
SNPshotrs34018799
SNPdbers34018799
MSV3drs34018799
GWAS Ctlgrs34018799
Max Magnitude0
OMIM142250
Desc
Variant0049
Relatedalso
ClinVar
Risk rs34018799(A;A) rs34018799(G;G)
Alt rs34018799(A;A) rs34018799(G;G)
Reference Rs34018799(T;T)
Significance Other
Disease HEMOGLOBIN F (OULED RABAH)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (OULED RABAH)
Reversed 1
HGVS NC_000011.9:g.5275899A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016144.1,


[PMID 10722115] Two new Ggamma chain variants: Hb F-clamart [gamma17(A14)Lys-->Asn] and Hb F-Ouled Rabah [gamma19(B1)Asn-->Lys].