Genetic variant
rs104894760 a variant in the AVPR2 gene
rs104894760 is a single-letter difference in the AVPR2 gene, on chromosome X. ClinVar, the public archive of variant interpretations, lists it as likely pathogenic: probably able to cause or contribute to disease. It has been reported in connection with Diabetes insipidus, nephrogenic and X-linked, among others. Carrying it does not, on its own, mean you have or will develop any condition.
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 rs104894760 is the catalogue number of one of them, in the AVPR2 gene. Which letters you carry there — one copy from each parent — is your genotype.
AVPR2 (arginine vasopressin receptor 2): This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase.
Gene description from NCBI Gene
Specific effects of chloride ion on epoxide hydrolysis. The pH-dependence of the rates and mechanism...
From SNPedia
Why might it matter?
ClinVar records this variant as likely pathogenic, meaning probably able to cause or contribute to disease. 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
- Diabetes insipidus, nephrogenic
- X-linked
- Nephrogenic diabetes insipidus
- Nephrogenic syndrome of inappropriate antidiuresis
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 rs104894760, if your test read this position.
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.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
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
- rs104894760
- Gene
- AVPR2
- Position
- chrX:153905816
- ClinVar classification
- Likely pathogenic
Sources
- dbSNP: rs104894760 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: AVPR2
- Ensembl: AVPR2