HNF1A, variants, traits, and what the research shows

HNF1A - what this gene does

Variants catalogued in HNF1A (Hepatocyte Nuclear Factor 1-Alpha) cluster into three broad trait themes - rare disease, cancer, and immune - based on the variant data currently on file. No detailed research summaries are yet available for individual variants in this gene, so the sections below characterize trait associations at a category level only.

Key takeaways

• HNF1A has variants linked to rare disease conditions, cancer, and immune traits
• 628 total variants are on file; all 20 highlighted variants carry an identical magnitude score of 5.50
• Rare disease is the most represented trait theme among the highlighted variants
• Cancer-linked and immune-linked variants are also present
• No individual variant currently has a detailed research summary available - trait labels reflect broad categories only

Notable variants

Among the highlighted variants, rs1026422272, rs1039479235, rs1057524908, and rs113111047 are each classified under rare disease traits. On the cancer side, rs1057520504, rs137853236, and rs137853238 are flagged in that category. Two variants - rs1249563793 and rs137853242 - carry immune trait classifications. All carry a magnitude score of 5.50. Because no per-variant research summaries are currently available, specific conditions, effect sizes, or mechanistic details cannot be reported here.

Trait associations

The variant data link this gene to three trait categories. Rare disease is the broadest, represented by rs1026422272, rs1039479235, rs1039799815, rs1045819255, rs1057520779, rs1057524908, rs112986697, rs113111047, rs1172328722, rs1180119907, rs1316999782, rs1364708195, rs1374173552, and rs137853243. Cancer associations are represented by rs1057520504, rs1288094664, rs137853236, and rs137853238. Immune trait associations appear in rs1249563793 and rs137853242. Multiple variants appearing within each category is noted; without individual-variant summaries the specific conditions within each theme remain uncharacterized here.

Evidence quality

All 20 highlighted variants carry a magnitude score of 5.50; however, no per-variant research summaries are currently available for this gene, meaning specific effect sizes (such as odds ratios or beta coefficients), study designs, cohort sizes, or replication status cannot be assessed. The 628 total variants on file represent a substantial catalogue, and the primary trait themes of rare disease and cancer suggest broad clinical relevance. Without detailed summaries it is not possible to distinguish GWAS hits - genome-wide association studies that scan many people's genomes for variants statistically associated with a trait - from ClinVar pathogenicity designations, or to determine whether any individual finding has been replicated across independent cohorts. All trait-category labels should be treated as provisional until full variant-level evidence is available.

What this is NOT

These variant associations are population-level statistical signals and carry no predictive certainty for any individual. This content does not constitute medical advice, diagnosis, or treatment recommendations.