Genetic variant

rs247617

rs247617 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 rs247617 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americ...

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 rs247617, 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
rs247617
Position
chr16:56956804

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Cholesterol to Total Lipids in Small LDL percentage A OR 0.14 9E-436 PubMed
high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) C OR 0.24 3E-308 PubMed
HDL x low social support interaction (2df test) A β 0.001 3E-302 PubMed
High density lipoprotein cholesterol levels — OR 3.33 1E-300 PubMed
High density lipoprotein cholesterol levels C OR 0.22 1E-300 PubMed
High density lipoprotein cholesterol levels C OR 0.22 1E-299 PubMed
Cholesteryl Esters to Total Lipids in Medium LDL percentage A β 0.086 1E-180 PubMed
High density lipoprotein cholesterol levels — OR 3.5 3E-175 PubMed
HDL x low social support interaction (2df test) A β 0.001 5E-169 PubMed
Free Cholesterol to Total Lipids in Medium LDL percentage A β 0.06 4E-167 PubMed
Metabolic syndrome A OR 0.2 2E-166 PubMed
Cholesteryl ester levels in chylomicrons and extremely large VLDL A β 0.06 2E-165 PubMed
Age-related disease endophenotypes — — 4E-165 PubMed
HDL x anxiety interaction (2df test) A β 0.003 1E-151 PubMed
Age-related diseases, mortality and associated endophenotypes — — 1E-149 PubMed
Low density lipoprotein cholesterol levels — — 4E-137 PubMed
Phospholipids to total lipids ratio in medium HDL A OR 0.11 1E-134 PubMed
Phospholipids to Total Lipids in Small HDL percentage A β 0.07 1E-122 PubMed
Triglyceride levels — — 6E-118 PubMed
HDL x anxiety interaction (2df test) A β 0.002 5E-107 PubMed

Sources