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rs34647752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34647752(A;A)
Make rs34647752(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5248439
GeneHBG1
is asnp
is mentioned by
dbSNPrs34647752
ebirs34647752
HLIrs34647752
Exacrs34647752
Varsomers34647752
Maprs34647752
PheGenIrs34647752
hapmaprs34647752
1000 genomesrs34647752
hgdprs34647752
ensemblrs34647752
gopubmedrs34647752
geneviewrs34647752
scholarrs34647752
googlers34647752
pharmgkbrs34647752
gwascentralrs34647752
openSNPrs34647752
23andMers34647752
23andMe allrs34647752
SNP Nexus

SNPshotrs34647752
SNPdbers34647752
MSV3drs34647752
GWAS Ctlgrs34647752
Max Magnitude0
OMIM142200
Desc
Variant0019
Relatedalso
OMIM142250
Desc
Variant0004
Relatedalso
ClinVar
Risk rs34647752(A,C,T;A,C,T)
Alt rs34647752(A,C,T;A,C,T)
Reference rs34647752(G;G)
Significance Other
Disease HEMOGLOBIN F (SIENA) HEMOGLOBIN F (HULL)
Variation info
Gene HBG1
CLNDBN HEMOGLOBIN F (SIENA) HEMOGLOBIN F (HULL)
Reversed 1
HGVS NC_000011.9:g.5269669C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016163.1, RCV000016164.1,



[PMID 2412617] Fetal hemoglobin variants identified in adults through restriction endonuclease gene mapping methodology.


[PMID 4710228] Further characterization of haemoglobin F Hull 121 glutamic acid leads to lysine; 136 alanine.


[PMID 6038320OA-icon.png] Haemoglobin F Hull (gamma-121 glutamic acid--lysine), homologous with haemoglobins O Arab and O Indonesia.