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rs281860601

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281860601(C;T)
Make rs281860601(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5249971
GeneHBG1
is asnp
is mentioned by
dbSNPrs281860601
ebirs281860601
HLIrs281860601
Exacrs281860601
Varsomers281860601
Maprs281860601
PheGenIrs281860601
hapmaprs281860601
1000 genomesrs281860601
hgdprs281860601
ensemblrs281860601
gopubmedrs281860601
geneviewrs281860601
scholarrs281860601
googlers281860601
pharmgkbrs281860601
gwascentralrs281860601
openSNPrs281860601
23andMers281860601
23andMe allrs281860601
SNP Nexus

SNPshotrs281860601
SNPdbers281860601
MSV3drs281860601
GWAS Ctlgrs281860601
Max Magnitude0
ClinVar
Risk rs281860601(T;T)
Alt rs281860601(T;T)
Reference rs281860601(C;C)
Significance Pathogenic
Disease Fetal hemoglobin quantitative trait locus 1
Variation info
Gene HBG1
CLNDBN Fetal hemoglobin quantitative trait locus 1
Reversed 1
HGVS NC_000011.9:g.5271201G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016179.25,


[PMID 1704803] The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene.