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rs33950507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) reduction in malarial risk; mild anemia
(A;G) reduction in malarial risk
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome11
Position5226943
GeneHBB
is asnp
is mentioned by
dbSNPrs33950507
ebirs33950507
HLIrs33950507
Exacrs33950507
Varsomers33950507
Maprs33950507
PheGenIrs33950507
hapmaprs33950507
1000 genomesrs33950507
hgdprs33950507
ensemblrs33950507
gopubmedrs33950507
geneviewrs33950507
scholarrs33950507
googlers33950507
pharmgkbrs33950507
gwascentralrs33950507
openSNPrs33950507
23andMers33950507
23andMe allrs33950507
SNP Nexus

SNPshotrs33950507
SNPdbers33950507
MSV3drs33950507
GWAS Ctlgrs33950507
GMAF0.0004591
Max Magnitude0
rs33950507 is a SNP found in the beta hemoglobin HBB gene, not far from the well-known SNP associated with malarial resistance (rs334, Hb S). This SNP gives rise to the "Hb E", or hemoglobin E, form of hemoglobin as the HBB forms are commonly named. It is found primarily in Southeast Asia.

rs33950507(A) is associated with somewhat increased malarial resistance, and in homozygous (A;A) state, with mild hypochromic microcytic anemia.[PMID 16114182]

OMIM141900
Desc
Variant0071
Relatedalso
OMIM141900
Desc
Variant0276
Relatedalso
ClinVar
Risk rs33950507(A,C,T;A,C,T)
Alt rs33950507(A,C,T;A,C,T)
Reference rs33950507(G;G)
Significance Other
Disease Hemoglobin E Beta-plus-thalassemia Hemoglobin E/beta thalassemia disease Malaria HEMOGLOBIN T (CAMBODIA) Hb SS disease
Variation info
Gene HBB
CLNDBN Hemoglobin E Beta-plus-thalassemia Hemoglobin E/beta thalassemia disease Malaria, resistance to HEMOGLOBIN T (CAMBODIA) Hb SS disease
Reversed 1
HGVS NC_000011.9:g.5248173C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016329.4, RCV000016330.28, RCV000016331.25, RCV000016332.29, RCV000016617.2, RCV000202534.1,


[PMID 19087310OA-icon.png] Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.


[PMID 22673309OA-icon.png] Variation in human genes encoding adhesion and proinflammatory molecules are associated with severe malaria in the Vietnamese.


[PMID 1878422] A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication.


[PMID 3728469OA-icon.png] Haplotypes among Vietnamese hemoglobin E homozygotes including one with a gamma-globin gene triplication.


[PMID 6198908OA-icon.png] Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.


[PMID 15481886] The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos.


[PMID 1974422] Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens.