chr7:43,693,994 in SMAD2
Representative variant at the SMAD2 body size locus on CanFam4 (UU_Cfam_GSD_1.0). Alleles A/G. small vs giant strong differentiation chr7 Per-breed allele frequencies are on the SMAD2 gene page. Predicted disease relevance at the per-dog level is UNPROVEN; this variant tags a morphology locus, not a clinical phenotype.
- CanFam4 position
- chr7:43,693,994
- Alleles
- A / G
- Linked gene
- SMAD2
- Trait association
- body size
- Reference assembly
- CanFam4 (UU_Cfam_GSD_1.0)
- Source dataset
- Sniff Atlas v1.0.1
Per-breed frequencies + pathogenicity
Per-breed allele frequencies at this position render on the SMAD2 gene page. For programmatic access, query the Sniff MCP at mcp.sniff.world or run bcftools directly against the Atlas sites VCF:
tabix sniff_atlas.sites.vcf.gz 7:43693994 Returns global AF, popmax breed, ESM2 LLR, Pangolin splice score, phyloP 241-way conservation, and the low-DR2 flag in the INFO column. Header carries source, version, license, and DOI. Download from the Zenodo record.
SMAD2 in other databases
Citations
Cite the Sniff Atlas DOI for the breed-stratified frequencies and the upstream CanVAS preprint for the genotype substrate:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
Brundage, D. M., et al. (2026). CanVAS: A Harmonized and Imputed Canine Variant Atlas. bioRxiv. https://doi.org/10.64898/2026.04.13.718238.
Full citation formats at sniff.world/cite.
Related
- SMAD2 gene page — per-breed allele frequencies at this representative SNP, biological notes, direction of effect.
- Sniff Atlas v1.0.1 — the source dataset.
- All variants in the trait-loci index