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rs36049074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs36049074(A;G)
Make rs36049074(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5253368
GeneHBG2
is asnp
is mentioned by
dbSNPrs36049074
ebirs36049074
HLIrs36049074
Exacrs36049074
Varsomers36049074
Maprs36049074
PheGenIrs36049074
hapmaprs36049074
1000 genomesrs36049074
hgdprs36049074
ensemblrs36049074
gopubmedrs36049074
geneviewrs36049074
scholarrs36049074
googlers36049074
pharmgkbrs36049074
gwascentralrs36049074
openSNPrs36049074
23andMers36049074
23andMe allrs36049074
SNP Nexus

SNPshotrs36049074
SNPdbers36049074
MSV3drs36049074
GWAS Ctlgrs36049074
Max Magnitude0
OMIM142250
Desc
Variant0014
Relatedalso
ClinVar
Risk rs36049074(G;G)
Alt rs36049074(G;G)
Reference rs36049074(A;A)
Significance Other
Disease HEMOGLOBIN F (MALTA)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (MALTA)
Reversed 1
HGVS NC_000011.9:g.5274598T>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016110.1,



[PMID 588240] Detection and quantitation of the fetal hemoglobin variant Hb F-Malta-I in adults.


[PMID 1709134] The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population.


[PMID 5792729] Haemoglobin F(Malta): a new foetal haemoglobin variant with a high incidence in Maltese infants.