NSD1, variants, traits, and what the research shows

NSD1 is a human gene with over 1,200 catalogued variants, all associated with rare disease traits across genetic research databases.

High-magnitude variants on file
1215
With published research summary
16
Trait themes
1

NSD1 - what this gene does

Variants catalogued in NSD1 are consistently linked to rare disease traits across the entries in our database. Without individual variant research summaries, the specific biological role cannot be characterized beyond this trait theme.

Key takeaways

  • All top-ranked NSD1 variants carry a magnitude score of 5.50, the highest level represented in this dataset
  • Every variant currently documented for this gene is classified under rare disease traits
  • Over 1,200 NSD1 variants are catalogued in total
  • These variants are population-level statistical signals, not personal health predictions
  • Detailed research summaries are on file for 16 variants in the full database

Notable variants

The 20 highest-magnitude entries all sit at 5.50, including rs1006906224, rs1057518175, rs1057518184, rs1057520581, rs1057520620, rs1057520671, rs1060501490, and rs1064793336. Each of these is classified under the rare disease trait category, and no single entry among this top tier separates itself by score alone.

Trait associations

All variants on file for this gene fall under the rare disease trait classification. This consistent categorization holds across rs1057520710, rs1060501492, rs1060501493, rs1060501494, rs1064793705, rs1064794033, and the remaining catalogued entries. The uniform rare disease classification across all 1,215 total variants points to a concentrated disease-relevant signal within this gene, though the specific conditions involved require review of the full per-variant records.

Evidence quality

Of 1,215 total variants on file, the 20 highest-magnitude entries all carry a score of 5.50 under the rare disease trait theme - a score tier reflecting strong clinical significance signals in this database. Detailed research summaries are noted as available for 16 variants, though none were provided in this input batch. Without individual SNP summaries, specific study designs, sample sizes, replication status, and effect sizes cannot be reported here. All findings should be treated as preliminary until the full variant records are reviewed.

What this is NOT

These variants represent population-level statistical signals, not deterministic predictors for any individual. We do not prescribe, diagnose, or advise any course of action based on this information.

Traits this gene affects

  • rare_disease

Top variants in NSD1

Highest-impact rsids on file, sorted by magnitude. Linked entries have a full research summary; unlinked entries are in the catalog but not yet written up.

rsidMagnitudePrimary trait
rs10069062245.5rare_disease
rs10575181755.5rare_disease
rs10575181845.5rare_disease
rs10575205815.5rare_disease
rs10575206205.5rare_disease
rs10575206715.5rare_disease
rs10575207105.5rare_disease
rs10605014905.5rare_disease
rs10605014925.5rare_disease
rs10605014935.5rare_disease
rs10605014945.5rare_disease
rs10605014975.5rare_disease
rs10647933365.5rare_disease
rs10647933615.5rare_disease
rs10647936165.5rare_disease
rs10647937055.5rare_disease
rs10647938435.5rare_disease
rs10647940335.5rare_disease
rs10647940515.5rare_disease
rs10647957345.5rare_disease