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Canine variant record (trait-locus tier)

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
Live query

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.

Gene cross-references

SMAD2 in other databases

How to cite this record

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

Related

Last updated
Sources: Sniff Atlas v1.0.1 · CanVAS (Brundage 2026)