rs1050828
G6PD deficiency, the A- variant
What this position does
G6PD deficiency is the most common enzyme deficiency in the world. It is usually silent until something triggers it: certain antimalarials, some antibiotics, the gout drug rasburicase, and fava beans can all cause red blood cells to break down. The gene is on the X chromosome, so men have only one copy.
What each result means
| If you carry | What it means |
|---|---|
| No copies of the effect version CC | You do not carry the A- variant The A- variant is absent. |
| One copy CT | One copy, which means different things by sex In women, one copy usually means partial deficiency with a variable effect. In men there is only one copy, so this means deficiency. |
| Two copies TT | Two copies, or hemizygous Consistent with G6PD deficiency. This is genuinely worth telling a doctor and a pharmacist, because it changes which drugs are safe for you. It is confirmed with a simple enzyme blood test. |
Worth knowing. This reads the A- variant, which is the common African form. Mediterranean and Asian forms are caused by different changes that are not read here, so a clear result does not rule out deficiency. The enzyme blood test does.
How common each version is
How many people carry each result
How to find out which you have
If you have taken a test with 23andMe, AncestryDNA, MyHeritage, Family Tree DNA, TellMeGen or Living DNA, this position is very likely already in the raw data file they gave you. You do not need another test.
One thing to watch if you look it up by hand: testing companies report some positions from one DNA strand and some from the other, and the file does not say which. Read the letters as they appear and you will get the opposite of the truth for some positions. Sequencings resolves that automatically.
Source
CPIC Guideline for Rasburicase and G6PD
Coordinates and allele pair verified against Ensembl GRCh37. Direction of effect verified against VEP protein consequences or 1000 Genomes population frequency. Category: Medicine response.
Where this fits
Common questions
What is rs1050828?
rs1050828 is a position in the G6PD gene on chromosome X. G6PD deficiency is the most common enzyme deficiency in the world. It is usually silent until something triggers it: certain antimalarials, some antibiotics, the gout drug rasburicase, and fava beans can all cause red blood cells to break down. The gene is on the X chromosome, so men have only one copy.
What does it mean if I have TT at rs1050828?
Two copies, or hemizygous. Consistent with G6PD deficiency. This is genuinely worth telling a doctor and a pharmacist, because it changes which drugs are safe for you. It is confirmed with a simple enzyme blood test.
What does it mean if I have CC at rs1050828?
You do not carry the A- variant. The A- variant is absent.
How do I find out my rs1050828 genotype?
If you have taken a home DNA test, this position is very likely in the raw data file you were given. Sequencings reads that file in your browser without uploading it, and resolves which DNA strand each position was reported from, which is the step most manual lookups get wrong.
This is reference information, not medical advice, and not a diagnosis. See the medical disclaimer. Category: Medicine response.