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rs33915112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33915112(A;C)
Make rs33915112(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226942
GeneHBB
is asnp
is mentioned by
dbSNPrs33915112
ebirs33915112
HLIrs33915112
Exacrs33915112
Varsomers33915112
Maprs33915112
PheGenIrs33915112
hapmaprs33915112
1000 genomesrs33915112
hgdprs33915112
ensemblrs33915112
gopubmedrs33915112
geneviewrs33915112
scholarrs33915112
googlers33915112
pharmgkbrs33915112
gwascentralrs33915112
openSNPrs33915112
23andMers33915112
23andMe allrs33915112
SNP Nexus

SNPshotrs33915112
SNPdbers33915112
MSV3drs33915112
GWAS Ctlgrs33915112
Max Magnitude0
OMIM141900
Desc
Variant0104
Relatedalso
OMIM141900
Desc
Variant0466
Relatedalso
OMIM141900
Desc
Variant0525
Relatedalso
ClinVar
Risk rs33915112(C,G,T;C,G,T)
Alt rs33915112(C,G,T;C,G,T)
Reference rs33915112(A;A)
Significance Other
Disease HEMOGLOBIN HENRI MONDOR Hb aubenas HEMOGLOBIN TRIPOLI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HENRI MONDOR Hb aubenas HEMOGLOBIN TRIPOLI
Reversed 1
HGVS NC_000011.9:g.5248172T>A; NC_000011.9:g.5248172T>C; NC_000011.9:g.5248172T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016377.2, RCV000016820.26, RCV000016881.2,


[PMID 1001469] Hb Henri Mondor: beta26 (B8) Glu leads to Val: a variant with a substitution localized at the same position as that of HbE beta26 Glu leads to Lys.


[PMID 8811314] Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E.


[PMID 15481887] Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser].