Genetic variant

rs1804495 a variant in the SERPINA7 gene

rs1804495 is a single-letter difference in the SERPINA7 gene, on chromosome X. ClinVar, the public archive of variant interpretations, lists it as conflicting interpretations: laboratories that have assessed it do not agree on whether it matters. It has been reported in connection with Thyroxine-binding globulin, variant P and Thyroxine-binding globulin quantitative trait locus, among others. 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 rs1804495 is the catalogue number of one of them, in the SERPINA7 gene. Which letters you carry there — one copy from each parent — is your genotype.

SERPINA7 (serpin family A member 7): There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum.

Gene description from NCBI Gene

No known significance [OMIM:THYROXINE-BINDING GLOBULIN, VARIANT P]

From SNPedia

Why might it matter?

ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

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 rs1804495, 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
rs1804495
Gene
SERPINA7
Position (GRCh38)
chrX:106034369
Variant type
snv
Consequence
missense variant
ClinVar classification
Conflicting classifications of pathogenicity

Genome-wide association studies (3)

TraitRisk alleleOR / betaP-valueStudy
Thyroxine levels A OR 0.5 3E-106 PubMed
Metabolite levels (thyroxine) A OR 0.37 2E-93 PubMed
Replication initiator 1 levels A OR 0.31 2E-73 PubMed

How common the less frequent letter is

gnomAD ALL
12.9%
1kG AFR
11.1%
1kG ALL
18%
1kG AMR
10.3%
1kG EAS
74.1%
1kG EUR
11.2%
1kG SAS
68.1%

Sources