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rs63750654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63750654(C;C)
Make rs63750654(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254956
GeneHBG2, ZNF285B
is asnp
is mentioned by
dbSNPrs63750654
ebirs63750654
HLIrs63750654
Exacrs63750654
Varsomers63750654
Maprs63750654
PheGenIrs63750654
hapmaprs63750654
1000 genomesrs63750654
hgdprs63750654
ensemblrs63750654
gopubmedrs63750654
geneviewrs63750654
scholarrs63750654
googlers63750654
pharmgkbrs63750654
gwascentralrs63750654
openSNPrs63750654
23andMers63750654
23andMe allrs63750654
SNP Nexus

SNPshotrs63750654
SNPdbers63750654
MSV3drs63750654
GWAS Ctlgrs63750654
Max Magnitude0
OMIM142250
Desc
Variant0027
Relatedalso
ClinVar
Risk rs63750654(C;C)
Alt rs63750654(C;C)
Reference rs63750654(T;T)
Significance Pathogenic
Disease Fetal hemoglobin quantitative trait locus 1
Variation info
Gene HBG2
CLNDBN Fetal hemoglobin quantitative trait locus 1
Reversed 1
HGVS NC_000011.9:g.5276186A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016123.26,


[PMID 1246351] Hereditary persistence of foetal haemoglobin with beta-chain synthesis in cis position (Ggamma-beta+-HPFH) in a negro family.