Genetic variant

rs1057868

rs1057868 is a single-letter difference in human DNA, on chromosome 7. Carrying it does not, on its own, mean you have or will develop any condition.

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What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs1057868 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

rs1057868, also known as A503V, is a relatively common variant defining the POR*28 allele of the P45...

From SNPedia

Why might it matter?

ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.

Do I have this variant?

If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs1057868, if your test read this position.

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Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

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What should I do next?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
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This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID
rs1057868
Position
chr7:75985688

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Coffee consumption (cups per day) C β 0.029 5E-36 PubMed
Coffee consumption T β 0.02 1E-33 PubMed
Creatinine levels in bottom 99% of individuals by creatinine levels — OR 0.29 3E-28 PubMed
Serum creatinine levels T β 0.018 1E-26 PubMed
Creatinine levels (UKB data field 30700) T β 0.019 2E-26 PubMed
Creatinine levels T β 0.013 1E-25 PubMed
Estimated glomerular filtration rate (creatinine) T β 0.024 2E-25 PubMed
Triglyceride levels T β 0.016 2E-23 PubMed
Bitter non-alcoholic beverage consumption T β 0.018 4E-23 PubMed
Caffeine consumption from coffee C β 0.024 6E-22 PubMed
Cholesteryl Esters to Total Lipids in Medium HDL percentage T β 0.02 1E-19 PubMed
Estimated glomerular filtration rate based on creatinine and cystatin C in bottom 99% of individuals by creatinine levels — OR 2.4 5E-19 PubMed
Cholesterol to Total Lipids in Medium HDL percentage T β 0.02 5E-17 PubMed
Estimated glomerular filtration rate (creatinine, cystatin c) T β 0.019 6E-17 PubMed
Cholesteryl Esters to Total Lipids in Large HDL percentage T β 0.02 1E-16 PubMed
NADPH--cytochrome P450 reductase levels T OR 0.2 2E-16 PubMed
Triglycerides in very small VLDL T β 0.02 3E-16 PubMed
Platelet count T β 0.013 1E-15 PubMed
Cholesterol to Total Lipids in Small HDL percentage T β 0.02 1E-15 PubMed
Cholesteryl Esters to Total Lipids in Small HDL percentage T β 0.02 3E-15 PubMed

Sources