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rs1050829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 G6PD Type B
(A;G) 2.2 G6PD Type A/B; possibly benign though
(G;G) 2.1 G6PD Type A; possibly benign though
ReferenceGRCh38 38.1/142
ChromosomeX
Position154535277
GeneG6PD
is asnp
is mentioned by
dbSNPrs1050829
ebirs1050829
HLIrs1050829
Exacrs1050829
Varsomers1050829
Maprs1050829
PheGenIrs1050829
hapmaprs1050829
1000 genomesrs1050829
hgdprs1050829
ensemblrs1050829
gopubmedrs1050829
geneviewrs1050829
scholarrs1050829
googlers1050829
pharmgkbrs1050829
gwascentralrs1050829
openSNPrs1050829
23andMers1050829
23andMe allrs1050829
SNP Nexus

SNPshotrs1050829
SNPdbers1050829
MSV3drs1050829
GWAS Ctlgrs1050829
GMAF0.08162
Max Magnitude2.2
OMIM305900
DescG6PD A+
Variant0001
Relatedalso
Neighborrs1050828
Distance725


rs1050829 is a SNP within the G6PD gene and is located the X chromosome. G6PD codes for the enzyme glucose-6-phosphate dehydrogenase, which helps protect the cell from oxidative damage. Depending on genotype, an individual may possess one of two primary versions of the G6PD gene; type A and type B. Type A is predominantly found in people who have African ancestry. Mutations of G6PD can cause varying degrees of G6PD deficiency, which is a disease affecting red blood cells. For example, an A to G substitution mutation at the rs1050829 locus (also known as A376G) is associated with reduced production of G6PD enzyme. Other mutations causing G6PD deficiency include; rs1050828. The G6PD deficient genotype A- (~8-20% reduction of G6PD) is typically defined by the possession of both the rs1050829 G allele and the rs1050828 A allele. G6PD deficiency frequency is highest in malarial regions where G6PD deficient individuals are typically less affected by malarial infection ([PMID 19546473OA-icon.png]).

The minor allele of this SNP should be reclassified as benign according to [PMID 26990548OA-icon.png] [PMID 22438807OA-icon.png] Study of malaria in Gambian children uses the rs1050829 allele to help detect G6PD deficient individuals.

[PMID 20459687OA-icon.png] A total of 72 SNPs were genotyped in two populations in eastern Sudan (Hausa and Massalit), as well as, a cohort of malaria hospital patients and a control sample set (n=449). The study found that in comparison to controls (n=69), Massalit individuals (n=60) who possess the rs105829 G allele were less susceptible to malarial infection (p=0.02).

[PMID 22906837] In a G6PD deficient Jordanian clinical population, the A376G allele was found to be at a frequency of 21% in males (n=47) and 9% in females (n=16). Whereas the G6PD deficient G202A/A376G genotype was found to be 19%.

[PMID 21849081OA-icon.png] Examines the frequency of G6PD deficiency genotypes in African malarial drug clinical trail patients from five different populations (Burkina Faso, Ghana, Kenya, Nigeria, Tanzania, and Mali).


ClinVar
Risk rs1050829(G,T;G,T)
Alt rs1050829(G,T;G,T)
Reference rs1050829(A;A)
Significance Other
Disease G6PD A+ Glucose 6 phosphate dehydrogenase deficiency G6PD BETICA G6PD CASTILLA G6PD DISTRITO FEDERAL G6PD TEPIC G6PD SANTAMARIA not provided Anemia
Variation info
Gene G6PD
CLNDBN G6PD A+ Glucose 6 phosphate dehydrogenase deficiency G6PD BETICA G6PD CASTILLA G6PD DISTRITO FEDERAL G6PD TEPIC G6PD SANTAMARIA not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153763492T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011073.4, RCV000011075.9, RCV000011076.5, RCV000011077.5, RCV000011078.5, RCV000011079.5, RCV000011109.1, RCV000079405.4, RCV000178823.3,



GET Evidence
G6PD-N156D
aa_change Asn156Asp
aa_change_short N156D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.114371
summary