Promethease
rs1050828(-;C)
255 CLNSIG
0.04293 GMAF
5 References
G6PD Gene
X Chromosome
154536002 Position
4 Max Magnitude
20141103 Rs time
plus Orientation
...less...
rs1050828 is a SNP residing in 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 G to A substitution mutation at the rs1050828 (also referred to as G202A) is associated with a reduction of G6PD. The G6PD deficient genotype A- (~8-20% reduction of G6PD) is typically defined by the possession of the rs1050828 A allele (rs1050828(A;A)). In addition, individuals who are type A- almost... ... more info...
G6PD ASAHI not provided
rs1050829(-;T)
255 CLNSIG
0.08162 GMAF
3 References
G6PD Gene
X Chromosome
154535277 Position
2.2 Max Magnitude
20140616 Rs time
plus Orientation
...more...
ClinVar Malaria
rs1050828(-;C)
255 CLNSIG
0.04293 GMAF
5 References
G6PD Gene
X Chromosome
154536002 Position
4 Max Magnitude
20141103 Rs time
plus Orientation
...less...
rs1050828 is a SNP residing in 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 G to A substitution mutation at the rs1050828 (also referred to as G202A) is associated with a reduction of G6PD. The G6PD deficient genotype A- (~8-20% reduction of G6PD) is typically defined by the possession of the rs1050828 A allele (rs1050828(A;A)). In addition, individuals who are type A- almost... ... more info...
G6PD ASAHI not provided
rs1050829(-;T)
255 CLNSIG
0.08162 GMAF
3 References
G6PD Gene
X Chromosome
154535277 Position
2.2 Max Magnitude
20140616 Rs time
plus Orientation
...more...
ClinVar Malaria