rs145268073
A SNP in the NLRP3 gene on chromosome 1. Its most notable genotype is A;G: Possible cryopyrin-associated syndrome mutation
- Gene
- NLRP3
- Location
- Chr 1247,424,912 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Show notes, about 180 words
rs145268073, also known as c.1463G>A, p.Arg488Lys, R488K and even R490K, is a rare variant in the NLRP3 gene on chromosome 1. The clinical impact of this variant is unclear. It was originally reported (in 2004) as being associated with cryopyrin-associated disorders, a group of rare, dominantly inherited, autoinflammatory diseases.capscommunity.com At that time, it was noted that some carriers of the variant were apparently unaffected though, leading to the conclusion that this may be a mutation with quite varying penetrance. In ClinVar, this mutation is tagged by different submitters as either likely to be pathogenic or likely to be benign, however, one submitter also notes that "the R490K variant has been observed in multiple patients ... with clinical phenotypes, including two patients with hearing loss, consistent with NLRP3-related periodic fevers syndromes". Overall, the jury is clearly out on whether this variant is clinically meaningful or not.
A;G
Pathogenicity of this genotype is unclear; see discussion at rs145268073.
Source and license
Adapted from rs145268073 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.