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Brachycephaly

SMOC2

chr1:56,380,603-56,539,474 ·

short-face candidate

Atlas-wide
75%
dog-weighted average
Breeds with data
208
of 215
Dogs contributing
13,523
CanVAS Atlas
What the frequency means

SMOC2 chr1:56.4Mb (Marchant 2017). Top brachycephaly hit in our village-baseline selection scan at |dP|=0.85. The H1 hardening test (logistic regression of brachy phenotype on the rep SNP) showed R^2=0.05 alone, vs R^2=0.96 with a genome-wide PRS - the rep SNP is necessary-but-not-sufficient.

High frequency means

short-face allele common at this rep SNP - BUT brachy is polygenic and SMOC2 alone does not cleanly tag the phenotype (some non-brachy breeds also read high here, e.g. Afghan Hound, Cardigan Welsh Corgi)

Low frequency means

long-face allele common - this direction reliably distinguishes non-brachy from brachy/intermediate (Bull Terrier, Leonberger, Newfoundland, Saint Bernard read at the bottom)

Frequency landscape

Where the brachycephaly variant sits across every breed with data, by and grouped by . Each tick is one breed; a variant fixed in one group and absent in another shows up as a gap. These come from one marker per trait, so read them as a : accurate for most breeds, with real exceptions.

0%50%100%
toy18 breeds · mean 79%
sporting19 breeds · mean 78%
terrier22 breeds · mean 73%
hound20 breeds · mean 70%
mixed_unknown3 breeds · mean 69%
herding16 breeds · mean 68%
ancient_landrace51 breeds · mean 67%
other16 breeds · mean 61%
non_sporting22 breeds · mean 60%
working21 breeds · mean 57%
n = 13,523 dogs · CanVAS Atlas (Brundage et al. 2026) · Sniff Atlas
Allele frequency across 208 breeds with data, grouped by AKC breed group. Each accent tick is one breed (fainter = fewer dogs sampled); the bone marker is the group mean. Frequencies are population-level.
Top 10 breeds, highest frequency
  1. 100% n=102
  2. Maltese toy
    100% n=96
  3. Shih Tzu toy
    100% n=38
  4. 100% n=33
  5. Pug toy
    100% n=31
  6. Lhasa Apso non_sporting
    100% n=26
  7. 100% n=24
  8. Afghan Hound hound
    100% n=21
  9. 99% n=67
  10. Border Terrier terrier
    99% n=59
Bottom 10 breeds, lowest frequency
  1. Leonberger working
    2% n=25
  2. Bull Terrier terrier
    2% n=44
  3. Newfoundland working
    12% n=182
  4. Saint Bernard working
    13% n=37
  5. Irish Setter sporting
    17% n=23
  6. Schipperke non_sporting
    20% n=40
  7. Boxer working
    22% n=192
  8. Bullmastiff working
    26% n=31
  9. Whippet hound
    28% n=23
  10. German Shepherd herding
    29% n=381

105 breeds with fewer than 20 genotyped dogs are not ranked here. At that sample size a single dog swings the frequency, so the figure is not yet stable enough to compare.

Methodology

Frequency is measured at the typed-backbone 1:56398416 on chr1, 56.4 Mb (inside the gene body). Alleles A/G. Coordinates from ensembl symbol UU Cfam GSD 1.0. Per-breed frequencies are computed across all CanVAS dogs labelled with that breed (missing genotypes excluded).

In the reference databases

SMOC2 as it is catalogued across the genomics world. Each link is the canonical record, so this gene composes with everything those resources know.

The human counterpart

In humans, this gene's counterpart is SMOC2. That ortholog is what connects SMOC2 to a century of human medical genetics. The dog and human proteins are 90% identical.

In people, SMOC2 appears tolerant of loss-of-function variation (gnomAD v4.1 constraint, LOEUF 0.82). Constraint measures intolerance to loss-of-function only and does not indicate importance; some tolerant genes cause disease through other mechanisms.

In people, variants in the SMOC2 gene have conflicting classifications in ClinVar, and none is expert-reviewed. The evidence is unsettled, not that variants here are benign.

How to cite this page

The per-breed allele frequencies on this page are derived from the open Sniff Atlas v1.0.1 (Gehring 2026, doi:10.5281/zenodo.20566358, CC-BY 4.0). The underlying genotype substrate is CanVAS (Brundage 2026, doi:10.64898/2026.04.13.718238), and disease associations are grounded in OMIA. Full citation formats including BibTeX, RIS, and CITATION.cff at sniff.world/cite.

Last updated
Sources: Sniff Atlas v1.0.1 (doi:10.5281/zenodo.20566358) · CanVAS (Brundage 2026) · OMIA · Dog10K (Meadows 2023) · gnomAD v4.1 (Karczewski 2020) · ClinVar (Landrum 2018)