LMF1 Chromosome 16
Lipase maturation factor 1
Upload your DNA to see your personal genotypes for variants in LMF1.
What This Gene Does
Involved in triglyceride metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (5)
Cardiovascular phenotype
Lipase deficiency
combined
LMF1-related disorder
Familial cancer of breast
Key Variants
RS138461953
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS181731943
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Lipase deficiency, combined
Health Risk
RS182685983
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS183552168
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Lipase deficiency, combined
Health Risk
RS186694298
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Lipase deficiency, combined
Health Risk
RS199615983
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS199713950
Conflicting classifications of pathogenicity
LMF1-related disorder, Cardiovascular phenotype, LMF1-related disorder
Health Risk
RS200382562
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS201734228
Conflicting classifications of pathogenicity
Lipase deficiency, combined, Cardiovascular phenotype
Health Risk
RS201767825
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS201927375
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS2072617381
Conflicting classifications of pathogenicity
Cardiovascular phenotype, LMF1-related disorder, Cardiovascular phenotype
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138461953 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS181731943 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Lipase deficiency, combined |
| RS182685983 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS183552168 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Lipase deficiency, combined |
| RS186694298 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Lipase deficiency, combined |
| RS199615983 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS199713950 | Health Risk | Conflicting classifications of pathogenicity | LMF1-related disorder, Cardiovascular phenotype, LMF1-related disorder |
| RS200382562 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS201734228 | Health Risk | Conflicting classifications of pathogenicity | Lipase deficiency, combined, Cardiovascular phenotype |
| RS201767825 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS201927375 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2072617381 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, LMF1-related disorder, Cardiovascular phenotype |
| RS34295987 | Health Risk | Conflicting classifications of pathogenicity | Lipase deficiency, combined, Cardiovascular phenotype |
| RS369478194 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS370179235 | Health Risk | Conflicting classifications of pathogenicity | LMF1-related disorder, Cardiovascular phenotype, LMF1-related disorder |
| RS370582733 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS375529211 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS532127028 | Health Risk | Conflicting classifications of pathogenicity | Lipase deficiency, combined, LMF1-related disorder |
| RS559176411 | Health Risk | Conflicting classifications of pathogenicity | Lipase deficiency, combined, Lipase deficiency |
| RS72759474 | Health Risk | Conflicting classifications of pathogenicity | LMF1-related disorder, Lipase deficiency, combined |
| RS747840267 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, LMF1-related disorder, Cardiovascular phenotype |
| RS752473648 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, LMF1-related disorder, Lipase deficiency |
| RS759181295 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS763719430 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS776584760 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS779869841 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS201406396 | Health Risk | Likely pathogenic | — |
| RS2073027596 | Health Risk | Likely pathogenic | — |
| RS2151701732 | Health Risk | Likely pathogenic | — |
| RS2544498725 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS549008037 | Health Risk | Likely pathogenic | Lipase deficiency, combined, Lipase deficiency |
| RS745764691 | Health Risk | Likely pathogenic | LMF1-related disorder, LMF1-related disorder |
| RS908611545 | Health Risk | Likely pathogenic | — |
| RS975431860 | Health Risk | Likely pathogenic | — |
| RS1167928854 | Health Risk | Pathogenic | — |
| RS121909397 | Health Risk | Pathogenic | Lipase deficiency, combined, Lipase deficiency |
| RS1237709439 | Health Risk | Pathogenic | — |
| RS1567270052 | Health Risk | Pathogenic | — |
| RS1780924305 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS587777626 | Health Risk | Pathogenic | Lipase deficiency, combined, Cardiovascular phenotype |
| RS759547196 | Health Risk | Pathogenic | — |
| RS769211813 | Health Risk | Pathogenic | Lipase deficiency, combined, Familial cancer of breast |
| RS887346658 | Health Risk | Pathogenic | Lipase deficiency, combined, Lipase deficiency |
| RS199953320 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Lipase deficiency, combined |
| RS554054538 | Health Risk | Pathogenic/Likely pathogenic | Lipase deficiency, combined, Cardiovascular phenotype |
| RS753503972 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS760536168 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS768161861 | Health Risk | Pathogenic/Likely pathogenic | Lipase deficiency, combined, Lipase deficiency |
| RS778522733 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |