SORCS2, variants, traits, and what the research shows

SORCS2 - what this gene does

Variants in SORCS2 have been catalogued through GWAS - genome-wide association studies that scan many people's genomes for variants statistically associated with a trait - across four broad trait themes: rare disease, neurological conditions, liver-related phenotypes, and cardiovascular outcomes. The available variant summaries do not provide sufficient detail to characterize a specific molecular function, so the description here stays within the trait landscape the data directly supports.

Key takeaways

• The highest-magnitude signal on file links this gene to a rare disease category, standing above all other variants in the dataset.
• Two independent variants point to liver-related traits, modestly supporting a replicated association in that domain.
• Additional associations span neurological and cardiovascular phenotypes, giving this gene an unusually broad trait profile.
• All signals are population-level GWAS findings - they reflect statistical patterns across large groups, not individual health predictions.
• 282 variants are catalogued in this gene; 24 carry prior research summaries.

Notable variants

The strongest entry on file is rs527663050 (magnitude 5.5), linked to a rare disease trait and representing the highest-magnitude signal across this gene's entire dataset. Among the magnitude-4.5 cluster, rs192716625 carries a neurological association, while rs531563674 and rs74483895 independently flag liver-related traits - the appearance of two distinct variants pointing to the same domain is a modest indicator of a replicated signal. rs58318008 carries a cardiovascular association at the same tier. Two additional magnitude-4.5 variants - rs10012347 and rs11721852 - have dedicated published pages with fuller editorial context.

Trait associations

Four broad domains emerge from the variant data. The rare disease theme is anchored by rs527663050, the highest-magnitude entry. Neurological associations surface through rs192716625. Liver-related traits appear in both rs531563674 and rs74483895 - the only domain represented by more than one trait-labelled variant at the 4.5 magnitude tier, which modestly strengthens that association. Cardiovascular phenotypes are flagged by rs58318008. Several additional magnitude-4.5 variants - rs4459992, rs4689636, rs545202789, rs73208473, and rs73799428 - carry no trait label in the current dataset.

Evidence quality

The dataset spans 282 variants, of which 24 carry prior research summaries and the remainder are catalogued without editorial context. The strongest signal - rs527663050 at magnitude 5.5 - falls in a rare disease category; rare-disease cohorts are often smaller than those used in common-disease GWAS, so independent replication would be important context that is not available here. The liver signal benefits from two independent variant associations (rs531563674 and rs74483895) pointing to the same domain, which is a modest positive for replication, but odds ratios, beta coefficients, and multi-cohort confirmation are absent from the available summaries. The neurological and cardiovascular associations each rest on a single documented variant, without replication evidence on file.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. This page does not prescribe, diagnose, or advise any medical action.