RSRC1, variants, traits, and what the research shows

RSRC1 - what this gene does

Variants in RSRC1 have been identified through genetic association research, in which large groups of people have their genomes scanned to find variants that appear more often alongside particular traits, primarily in the context of rare diseases and cancer. The trait themes seen across catalogued variants in this gene span multiple disease categories rather than a single well-characterized pathway.

Key takeaways

• Seven variants in this gene share the highest magnitude recorded in this dataset, all flagged for rare disease associations
• A cancer-associated variant has a dedicated research entry, making it among the better-studied signals here
• Respiratory and mental health trait signals also appear, though these come from single variants and should be treated as preliminary
• With 155 total catalogued variants and 18 carrying prior research summaries, the full picture of this gene's associations is still emerging
• All associations here are population-level statistical findings, not certainties for any individual

Notable variants

The strongest signals on file are seven rare disease variants all carrying a magnitude of 5.50: rs1183090232, rs1335486803, rs1727334508, rs2108279740, rs746219497, rs754550509, and rs868818936. Two additional rare disease variants, rs2473655748 and rs762779524, follow at magnitude 5.00. On the cancer front, rs11924202 carries a magnitude of 4.50 and has a dedicated research page. Also at magnitude 4.50, rs4680444 is linked to a respiratory trait and rs7629432 is linked to a mental health trait.

Trait associations

Rare disease is the dominant theme across catalogued variants in this gene, with at least 16 variants flagged under this category spanning magnitudes from 3.00 to 5.50. The highest-magnitude rare disease cluster includes rs1183090232, rs1335486803, rs1727334508, rs2108279740, rs746219497, rs754550509, and rs868818936, all at magnitude 5.50. Eight additional rare disease variants appear at magnitudes 3.00 to 5.00, including rs2473655748 and rs762779524 at the higher end of that range. Cancer appears as a secondary theme through rs11924202. Respiratory and mental health traits each have a single-variant signal via rs4680444 and rs7629432 respectively.

Evidence quality

The seven magnitude-5.50 rare disease variants represent the strongest signals in this dataset, but published effect sizes, sample sizes, and replication status are not available in the current summary for most of them. The cancer variant rs11924202 has a dedicated research page, suggesting at least some level of scientific review, though specific effect size data were not available for this entry. The respiratory signal at rs4680444 and the mental health signal at rs7629432 appear as single-variant findings without replication data and should be treated as preliminary. Overall, with 155 total variants catalogued and only 18 carrying research summaries, this gene's associations are still being characterized across the research literature.

What this is NOT

These variants are population-level statistical signals from GWAS (genome-wide association studies, which scan many people's genomes for variants statistically linked to a trait) and related methods, and are not deterministic predictors of any health outcome for any individual. Nothing on this page constitutes a diagnosis, recommendation, or medical advice of any kind.