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rs33930165

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 93% reduction in malarial risk
(A;C) 29% reduction in malarial risk
(C;C) variant
(G;G) 0 common in clinvar
Make rs33930165(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227003
GeneHBB
is asnp
is mentioned by
dbSNPrs33930165
ebirs33930165
HLIrs33930165
Exacrs33930165
Varsomers33930165
Maprs33930165
PheGenIrs33930165
hapmaprs33930165
1000 genomesrs33930165
hgdprs33930165
ensemblrs33930165
gopubmedrs33930165
geneviewrs33930165
scholarrs33930165
googlers33930165
pharmgkbrs33930165
gwascentralrs33930165
openSNPrs33930165
23andMers33930165
23andMe allrs33930165
SNP Nexus

SNPshotrs33930165
SNPdbers33930165
MSV3drs33930165
GWAS Ctlgrs33930165
GMAF0.002296
Max Magnitude0
rs33930165 is a relatively rare SNP found in the beta hemoglobin HBB gene, adjacent to the well-known SNP associated with malarial resistance (rs334). This SNP gives rise to the "Hb C", or hemoglobin C, form of hemoglobin as the HBB forms are commonly named. It is found primarily in a subset of West Africa.

rs33930165 is associated with increased malarial resistance, yet without giving rise to sickle cell anemia. A study of 4,000+ individuals in Burkina Faso found that rs33930165(A;G) heterozygotes had a 29% reduction in risk of clinical malaria (p = 0.0008), and rs33930165(C;C) homozygotes had a 93% reduction (p = 0.0011).[PMID 11713529]

OMIM141900
Desc
Variant0010
Relatedalso
OMIM141900
Desc
Variant0038
Relatedalso
OMIM141900
Desc
Variant0166
Relatedalso


[PMID 21451558] Evidence for epistasis between hemoglobin C and immune genes in human P. falciparum malaria: a family study in Burkina Faso


ClinVar
Risk rs33930165(A,C;A,C)
Alt rs33930165(A,C;A,C)
Reference rs33930165(G;G)
Significance Other
Disease HEMOGLOBIN MACHIDA HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN C Malaria Hb SS disease not provided
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MACHIDA HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN C Malaria, resistance to Hb SS disease not provided
Reversed 1
HGVS NC_000011.9:g.5248233C>G; NC_000011.9:g.5248233C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016448.2, RCV000016251.2, RCV000016284.6, RCV000016285.28, RCV000202507.1, RCV000224028.1,



[PMID 6129204] Hemoglobin Machida [beta 6 (A3) Glu replaced by Gln], a new abnormal hemoglobin discovered in a Japanese family: structure, function and biosynthesis.