ALMS1, variants, traits, and what the research shows

ALMS1 - what this gene does

Based on the variant catalog available, ALMS1 is linked to two broad trait themes: cardiovascular conditions and rare disease phenotypes. No detailed SNP summary data is yet available for the highlighted variants, so the characterization below rests on trait-category annotations only.

Key takeaways

• ALMS1 has more than 3,500 variants on file, one of the larger genetic catalogs in current research databases.
• All 20 highlighted variants carry a uniform magnitude score of 5.50, reflecting a consistent level of annotated research significance.
• The majority of highlighted variants are annotated with cardiovascular traits; six carry rare-disease annotations.
• No detailed effect-size data (such as odds ratios or sample sizes) is yet available for these specific entries.
• These variants are population-level statistical signals - not individual health predictors.

Notable variants

All 20 variants listed for this gene carry a magnitude score of 5.50. The cardiovascular-annotated group includes rs1017054461, rs1019805272, rs1020163869, rs1021572525, and rs1023974968, along with rs1034630858, rs1039388814, rs1042904406, rs1043429291, rs1047348249, rs1057524883, rs1131691296, rs115444326, and rs1177908281. The rare-disease group comprises rs1060500034, rs1060500039, rs1162425274, rs1163532771, rs1170410040, and rs1174712970.

Trait associations

The highlighted variants split across two trait categories. Cardiovascular associations appear across 14 of the 20 listed variants - including rs1017054461, rs1019805272, rs115444326, and rs1177908281 - indicating this gene appears repeatedly in cardiovascular research. A distinct cluster of six variants - rs1060500034, rs1060500039, rs1162425274, rs1163532771, rs1170410040, and rs1174712970 - are annotated as rare-disease signals, suggesting this gene's research footprint extends beyond cardiovascular phenotypes.

Evidence quality

The 3,515 variants catalogued for ALMS1 represent a large genetic footprint, and the 20 highlighted here all carry a magnitude score of 5.50. However, no SNP-level detail - such as odds ratios, beta coefficients, sample sizes, study cohort identity, or replication status - is currently available in the provided summaries. Trait associations are therefore described only at the category level (cardiovascular, rare disease), and the strength, direction, or population specificity of any individual signal cannot be assessed from the data on hand. These annotations should be treated as a preliminary index of research activity, not a settled evidence base.

What this is NOT

These variants are population-level statistical signals from research studies, not deterministic predictors of any individual's health outcomes. Nothing on this page constitutes medical advice, a diagnosis, or a recommendation to take any action.