Have questions? Visit https://www.reddit.com/r/SNPedia

rs34017450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs34017450(A;C)
Make rs34017450(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254474
GeneHBG1
is asnp
is mentioned by
dbSNPrs34017450
ebirs34017450
HLIrs34017450
Exacrs34017450
Varsomers34017450
Maprs34017450
PheGenIrs34017450
hapmaprs34017450
1000 genomesrs34017450
hgdprs34017450
ensemblrs34017450
gopubmedrs34017450
geneviewrs34017450
scholarrs34017450
googlers34017450
pharmgkbrs34017450
gwascentralrs34017450
openSNPrs34017450
23andMers34017450
23andMe allrs34017450
SNP Nexus

SNPshotrs34017450
SNPdbers34017450
MSV3drs34017450
GWAS Ctlgrs34017450
Max Magnitude0
OMIM142250
Desc
Variant0012
Relatedalso
ClinVar
Risk rs34017450(C;C)
Alt rs34017450(C;C)
Reference rs34017450(A;A)
Significance Other
Disease HEMOGLOBIN F (LODZ)
Variation info
Gene HBG2
CLNDBN HEMOGLOBIN F (LODZ)
Reversed 1
HGVS NC_000011.9:g.5275704T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016108.1,



[PMID 1726098] A second observation of Hb F-Lodz or alpha 2G gamma (2)44(CD3)Ser----Arg.


[PMID 6814491] Hemoglobin F Lodz (G gamma I 44 Ser replaced by Arg). A newly identified variant from an American infant of Polish descent.