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rs35378915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35378915(A;A)
Make rs35378915(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5249974
GeneHBG1
is asnp
is mentioned by
dbSNPrs35378915
ebirs35378915
HLIrs35378915
Exacrs35378915
Varsomers35378915
Maprs35378915
PheGenIrs35378915
hapmaprs35378915
1000 genomesrs35378915
hgdprs35378915
ensemblrs35378915
gopubmedrs35378915
geneviewrs35378915
scholarrs35378915
googlers35378915
pharmgkbrs35378915
gwascentralrs35378915
openSNPrs35378915
23andMers35378915
23andMe allrs35378915
SNP Nexus

SNPshotrs35378915
SNPdbers35378915
MSV3drs35378915
GWAS Ctlgrs35378915
Max Magnitude0
OMIM142200
Desc
Variant0026
Relatedalso


ClinVar
Risk rs35378915(A;A)
Alt rs35378915(A;A)
Reference rs35378915(G;G)
Significance Pathogenic
Disease Fetal hemoglobin quantitative trait locus 1 Sardinian HPFH Greek HPFH
Variation info
Gene HBG1
CLNDBN Fetal hemoglobin quantitative trait locus 1 Sardinian HPFH Greek HPFH
Reversed 1
HGVS NC_000011.9:g.5271204C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016171.26, RCV000016172.26, RCV000016173.26,



[PMID 1201197] Globin chain synthesis in the greek type (A gamma) of hereditary persisitence of fetal haemoglobin.


[PMID 2452784] A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia.


[PMID 2469505] The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin.


[PMID 2578619] G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.


[PMID 2578620] A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin.


[PMID 3181130OA-icon.png] The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene.