Genetic variant

rs2075290

rs2075290 is a single-letter difference in human DNA, on chromosome 11. 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 rs2075290 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.

We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.

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 rs2075290, 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
rs2075290
Position
chr11:116782580

Genome-wide association studies (20)

TraitRisk alleleOR / betaP-valueStudy
Triglycerides C OR 0.24 6E-284 PubMed
Triglyceride levels — OR 0.11 4E-70 PubMed
High density lipoprotein cholesterol levels C OR 0.14 7E-61 PubMed
Metabolic syndrome T OR 0.19 1E-55 PubMed
Total cholesterol levels C OR 0.1 4E-40 PubMed
Sphingomyelin_34:1_[M+H]1+ levels C OR 0.2 5E-17 PubMed
Waist Circumference - Triglycerides (WC-TG) C OR 0.41 1E-16 PubMed
Sphingomyelin_34:0_[M+H]1+ levels C OR 0.19 2E-16 PubMed
Sphingomyelin_38:1_[M+H]1+ levels C OR 0.19 3E-16 PubMed
Diacylglycerol_44:7_[M+H-H2O]1+ levels C OR 0.19 4E-16 PubMed
Diacylglycerol_36:2_[M+H-H2O]1+ levels C OR 0.17 5E-16 PubMed
Diacylglycerol_34:2_[M+H-H2O]1+ levels C OR 0.17 6E-16 PubMed
Phosphatidylcholine-O_31:0_[M+H]1+/Phosphatidylethanolamine-O_34:0_[M+H]1+ levels C OR 0.18 2E-15 PubMed
Diacylglycerol_36:3_[M+H-H2O]1+ levels C OR 0.17 3E-15 PubMed
Phosphatidylcholine-O_34:3_[M+H]1+/Phosphatidylcholine-P_34:2_[M+H]1+/Phosphatidylethanolamine-P_37:2_[M+H]1+ levels C OR 0.18 1E-14 PubMed
Phosphatidylcholine-O_32:1_[M+H]1+/Phosphatidylcholine-P_32:0_[M+H]1+/Phosphatidylethanolamine-O_35:1_[M+H]1+ levels C OR 0.18 1E-14 PubMed
HDL Cholesterol - Triglycerides (HDLC-TG) C OR 0.39 2E-14 PubMed
Phosphatidylcholine_32:0_[M+H]1+/Phosphatidylethanolamine_35:0_[M+H]1+/Phosphatidate_37:1_[M+NH4]1+ levels C OR 0.17 4E-14 PubMed
Diacylglycerol_34:1_[M+H-H2O]1+ levels C OR 0.16 4E-14 PubMed
Phosphatidylcholine-O_34:1_[M+H]1+/Phosphatidylcholine-P_34:0_[M+H]1+/Phosphatidylethanolamine-O_37:1_[M+H]1+ levels C OR 0.17 9E-14 PubMed

Sources