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rs34427034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34427034(A;A)
Make rs34427034(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5249789
GeneHBG1
is asnp
is mentioned by
dbSNPrs34427034
ebirs34427034
HLIrs34427034
Exacrs34427034
Varsomers34427034
Maprs34427034
PheGenIrs34427034
hapmaprs34427034
1000 genomesrs34427034
hgdprs34427034
ensemblrs34427034
gopubmedrs34427034
geneviewrs34427034
scholarrs34427034
googlers34427034
pharmgkbrs34427034
gwascentralrs34427034
openSNPrs34427034
23andMers34427034
23andMe allrs34427034
SNP Nexus

SNPshotrs34427034
SNPdbers34427034
MSV3drs34427034
GWAS Ctlgrs34427034
Max Magnitude0
OMIM142200
Desc
Variant0020
Relatedalso
ClinVar
Risk rs34427034(A;A)
Alt rs34427034(A;A)
Reference rs34427034(G;G)
Significance Other
Disease HEMOGLOBIN F (TEXAS I)
Variation info
Gene HBG1
CLNDBN HEMOGLOBIN F (TEXAS I)
Reversed 1
HGVS NC_000011.9:g.5271019C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016165.1,


[PMID 2453112] The variant fetal hemoglobin F Texas I is abnormally acetylated.


[PMID 5038699] Further characterisation of haemoglobin F Texas I 5 glutamic acid leads to lysine; 136 alanine.


[PMID 6019034] Haemoglobin F Texas I(alpha-2,gamma-2-5glu-lys): a variant of haemoglobin F.