rs111033566

A SNP in the PRSS1 gene on chromosome 7. Its most notable genotype is A;C: Problematic; maybe pathogenic for hereditary pancreatitis, maybe not

Gene
PRSS1
Location
Chr 7142,750,600 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;CMost notableBadProblematic; maybe pathogenic for hereditary pancreatitis, maybe notWorth knowing · 2.0
  3. A;TBadProblematic; maybe pathogenic for hereditary pancreatitis, maybe notWorth knowing · 2.0
  4. T;TBadProblematic; maybe pathogenic for hereditary pancreatitis, maybe not; this is also the genotype seen in 99% of all Ancestry users, so it's a likely miscall in Ancestry dataWorth knowing · 2.0

On SNPedia: (A;A), (A;C), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other PRSS1 SNPs

All PRSS1 SNPs

Notes

From SNPedia

Show notes, about 180 words

aka c.86A>T, p.Asn29Ile and N29I, but also, c.86A>C, p.Asn29Thr and N29T; in older literature, N21I or Asn21Ile For technical reasons, be aware of the possible disconnect between the literature on hereditary pancreatitis about the mutations at this SNP compared to the frequencies observed for these mutations in populations (i.e. populations that are mostly healthy and where the incidence of pancreatitis is quite low). Specifically, numerous publications, ClinVar, and the Pancreas Genetics database all state that the N29I/N29T mutation is dominant and pathogenic (for hereditary pancreatitis). However, allele frequencies reported in dbSNP, taken from ExAC/gnomAD, for the rs111033566(T) allele are around 26-47%, a frequency too high to be a pathogenic mutation for a rare condition. Furthermore, 99% of Ancestry raw data reports rs111033566 as being (T;T). It seems likely that the presence of highly homologous genes and pseudogenes may make this SNP prone to technical miscalls.

A;C

see discussion at rs111033566

A;T

see discussion at rs111033566

T;T

see discussion at rs111033566

Source and license

Adapted from rs111033566 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.