rs144422014
A SNP in the PRSS1 gene on chromosome 7. Its most notable genotype is A;G: Probably benign, but possibly associated with hereditary pancreatitis
- Gene
- PRSS1
- Location
- Chr 7142,750,675 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;GMost notableBadProbably benign, but possibly associated with hereditary pancreatitis
- G;GBadProbably benign, but possibly associated with hereditary pancreatitis
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PRSS1 SNPs
- rs111033564A;GHereditary pancreatitisVery important
- rs111033565A;GHereditary pancreatitisVery important
- rs111033567A;GHereditary pancreatitisVery important
- rs111033568C;THereditary pancreatitisVery important
- rs202003805C;THereditary pancreatitis possible; possible miscall thoughVery important
- rs387906698C;THereditary pancreatitisVery important
- rs397507439C;THereditary pancreatitisVery important
- rs397507440A;THereditary pancreatitisVery important
Notes
From SNPedia
Notes
aka c.161A>G, p.Asn54Ser and N54S Information about this variant is somewhat complex. The minor allele, rs144422014(G), is classified as pathogenic for hereditary pancreatitis in ClinVar, a condition associated with dominant or de novo mutations. However, the frequency of the minor allele is relatively high (~3% in ExAC), and, OMIM quotes a paper that concludes this N54S variant is itself functional, but due to gene conversion with a pseudogene it may be seen together with an actual pathogenic mutation nearby, rs111033566.
A;G
see discussion at rs144422014
G;G
see discussion at rs144422014
Source and license
Adapted from rs144422014 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.