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rs34150306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34150306(A;G)
Make rs34150306(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254374
GeneHBG2
is asnp
is mentioned by
dbSNPrs34150306
dbSNP (classic)rs34150306
ClinGenrs34150306
ebirs34150306
HLIrs34150306
Exacrs34150306
Gnomadrs34150306
Varsomers34150306
LitVarrs34150306
Maprs34150306
PheGenIrs34150306
Biobankrs34150306
1000 genomesrs34150306
hgdprs34150306
ensemblrs34150306
geneviewrs34150306
scholarrs34150306
googlers34150306
pharmgkbrs34150306
gwascentralrs34150306
openSNPrs34150306
23andMers34150306
SNPshotrs34150306
SNPdbers34150306
MSV3drs34150306
GWAS Ctlgrs34150306
Max Magnitude0
OMIM142250
Desc
Variant0009
Relatedalso


ClinVar
Risk rs34150306(G;G) rs34150306(T;T)
Alt rs34150306(G;G) rs34150306(T;T)
Reference Rs34150306(A;A)
Significance Other
Disease HEMOGLOBIN F (KENNESTONE)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (KENNESTONE)
Reversed 1
HGVS NC_000011.9:g.5275604T>C
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016105.1,



[PMID 6192110] Hb F-Kennestone or alpha 2G gamma 2 (EF1)77 His leads to Arg observed in a Caucasian baby.