PAPPA2, variants, traits, and what the research shows

PAPPA2 - what this gene does

Based on the variants catalogued here, PAPPA2 carries signals across several broad trait categories: rare disease phenotypes dominate the profile, with additional associations spanning cardiovascular, respiratory, and liver-related conditions.

Key takeaways

• Eleven high-magnitude variants in this gene are linked to rare disease categories
• Separate signals connect this gene to cardiovascular, respiratory, and liver traits
• 175 variants are catalogued for this gene, with 27 carrying prior research summaries
• These are population-level statistical associations, not individual health predictors

Notable variants

The eleven highest-magnitude variants on file - rs116269563, rs1164296221, rs1414763157, rs1665095845, rs2102651720, rs2102813590, rs2102818589, rs2525428927, rs370618435, rs375941290, and rs376402363 - all carry a magnitude score of 5.5 and are classified under rare disease. Among non-rare-disease signals, rs10454444 (magnitude 4.5) is associated with cardiovascular traits and has a dedicated published page; rs58090844 (magnitude 4.5) is linked to respiratory traits; and rs868568044 (magnitude 4.5) is linked to liver-related traits.

Trait associations

The dominant trait theme across this gene's variant catalogue is rare disease, represented by the eleven magnitude-5.5 variants listed above as well as several magnitude-3.0 rare disease variants including rs1024874317, rs1178239021, rs1255241135, rs1367986985, and rs1443788497. Beyond rare disease, cardiovascular (rs10454444), respiratory (rs58090844), and liver (rs868568044) trait associations are each represented by a single variant at magnitude 4.5.

Evidence quality

175 variants are catalogued for this gene, of which 27 carry prior research summaries; the variants highlighted here carry trait classifications and magnitude scores but no published summary text with effect sizes, sample sizes, or replication data is currently available. Most classifications derive from GWAS (genome-wide association studies - large scans of many people's genomes for variants statistically linked to a trait) or similar large-scale analyses. The top-magnitude signals are all classified under rare disease - a category that often reflects variants with clinically meaningful annotations - but the absence of detailed summaries means these entries should be treated as preliminary pending fuller annotation. The cardiovascular signal at rs10454444 has a dedicated published page that may provide additional context.

What this is NOT

These variants represent population-level statistical signals from genomic research, not deterministic predictors of any individual's health outcome. This page does not prescribe, diagnose, or advise any course of action.