rs202103485
A SNP in the LOC100289580 gene on chromosome 16. Its most notable genotype is C;T: Xerocytosis-associated according to literature, but probably actually of little consequence
- Gene
- LOC100289580
- Location
- Chr 1688,733,652 (GRCh38)
- Highest magnitude
- 1.0Minor
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadXerocytosis-associated according to literature, but probably actually of little consequence
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 180 words
aka c.2423G>A (p.Arg808Gln) This variant is one of the three mutations in the PIEZO1 gene reported as inherited together: c.[1848+31C>G;2344G>A;2423G>A], which was reported as being associated with xerocytosis in a 2013 publication. The prevalence of xerocytosis (from all known mutations) in the population is historically reported as being around 1 in 50,000 individuals, and even a recent estimate based on CBC tests carried out on samples sent in from physicians (likely to have a bias towards affected patients) estimated a prevalence of around 1 in 8,000. However, the minor allele for both this variant and the linked rs200970763 are seen in around 1 in 200 people, based on both DNA chip data gathered by Promethease from both 23andMe and Ancestry raw data, and based on sequencing data (gnomAD). Therefore, because the observed frequency is at least 100-fold higher than the estimated prevalence, it is unlikely that either of these variants is actually causative for xerocystosis.
C;T
Seen in far more people than have the disorder, so if there is even any association, it's likely to be quite weak.
Source and license
Adapted from rs202103485 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.