Genetic variant

rs247616

rs247616 is a single-letter difference in human DNA, on chromosome 16. 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 rs247616 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

Genome-wide association of lipid-lowering response to statins in combined study populations. [GWAS:...

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 rs247616, 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
rs247616
Position
chr16:56955678

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Free Cholesterol to Total Lipids in Large VLDL percentage T OR 0.22 8E-1160 PubMed
Triglycerides to Total Lipids in Large VLDL percentage T OR 0.21 2E-1025 PubMed
Free Cholesterol to Total Lipids in Large VLDL percentage T OR 0.18 6E-633 PubMed
Triglycerides to Total Lipids in Large VLDL percentage T OR 0.16 8E-508 PubMed
Ratio of apolipoprotein B to apolipoprotein A1 levels T OR 0.13 2E-413 PubMed
Total lipid levels in medium HDL C OR 0.16 5E-324 PubMed
high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) C OR 0.29 1E-323 PubMed
high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) C OR 0.28 1E-323 PubMed
high density lipoprotein cholesterol (HDLC, maximum, inv-norm transformed) C OR 0.28 1E-323 PubMed
high density lipoprotein cholesterol (HDLC, maximum, inv-norm transformed) C OR 0.25 1E-323 PubMed
Ratio of apolipoprotein B to apolipoprotein A1 levels T OR 0.11 5E-237 PubMed
Triglycerides to total lipids ratio in large HDL T OR 0.14 4E-217 PubMed
Total cholesterol levels T β 0.041 2E-123 PubMed
Phospholipids to total lipids in chylomicrons and extremely large VLDL percentage (UKB data field 23579) T OR 0.11 1E-103 PubMed
Cholesteryl ester transfer protein levels C OR 0.32 4E-100 PubMed
HDL x depression interaction (2df test) T β 0.001 4E-84 PubMed
Triglycerides to total lipids ratio in very large HDL T β 0.081 2E-76 PubMed
Phospholipids to total lipids ratio in medium VLDL C β 0.078 1E-75 PubMed
Phospholipids to Total Lipids in Small HDL percentage T β 0.04 2E-74 PubMed
Phospholipid levels in small VLDL C β 0.079 9E-72 PubMed

Sources