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rs35983258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35983258(C;T)
Make rs35983258(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5250053
GeneHBG1
is asnp
is mentioned by
dbSNPrs35983258
dbSNP (classic)rs35983258
ClinGenrs35983258
ebirs35983258
HLIrs35983258
Exacrs35983258
Gnomadrs35983258
Varsomers35983258
LitVarrs35983258
Maprs35983258
PheGenIrs35983258
Biobankrs35983258
1000 genomesrs35983258
hgdprs35983258
ensemblrs35983258
geneviewrs35983258
scholarrs35983258
googlers35983258
pharmgkbrs35983258
gwascentralrs35983258
openSNPrs35983258
23andMers35983258
SNPshotrs35983258
SNPdbers35983258
MSV3drs35983258
GWAS Ctlgrs35983258
Max Magnitude0
OMIM142200
Desc
Variant0027
Relatedalso


ClinVar
Risk rs35983258(T;T)
Alt rs35983258(T;T)
Reference Rs35983258(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.5271283G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016177.22,



[PMID 6210198OA-icon.png] A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia.