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Saint Bernard

Saint Bernard
Photo: Blanky / CC BY-SA 3.0 · Wikimedia

37 Saint Bernards in the atlas. Every number on this page has a source.

Population-genetic snapshot of Saint Bernards in the Sniff Atlas, source-graded Mendelian carrier frequencies from Donner 2023, and nutrition guidance tied to the genetic findings above.

Also known as Alpine Mastiff (archaic), Bernhardiner, Saint, and St. Bernard.

See in the atlas → From CanVAS
The plain version

Saint Bernards have a moderately varied genetic background, meaning there's a good mix of traits within the breed. They are large dogs, typically weighing around 146 pounds, and usually live about 9 years. Their closest relatives include breeds like the Leonberger and Bernese Mountain Dog. So far, no specific health concerns have been found in their gene pool through standard carrier testing, but it's always a good idea to chat with your vet about any health questions.

What the atlas says about Saint Bernard

In the atlas, the Saint Bernard clusters consistently as Saint Bernard (100% of the 37 dogs here). At the trait loci, SMOC2 runs lower than average (12% here vs 75%); STC2 runs lower than average (26% here vs 74%). Dogs here sit in a relatively sparse region of the atlas, fewer close neighbors than typical.

Median lifespan is 9.3 years, about 1.7 years shorter than a typical dog of 66.0 kg, one of the larger gaps in the atlas.

Genetic dimensions · CanVAS atlas

What the genome says about Saint Bernard

Computed from the 18,477 research dogs in the Atlas.

Dogs in the Atlas
37Founders
26 from Hayward2016, 10 from Spatola, 1 from Shannon
Genetic diversity
0.31Moderate
Mean heterozygosity across the breed. Ranks 46th most genetically tight of 107 ranked breeds.
What does genetic diversity mean?

How varied a breed's gene pool is — the share of gene spots where a typical dog of the breed carries two different versions rather than two identical ones.

How to read it: Higher = more diverse. Among well-sampled breeds it ranges roughly 0.22 (least diverse) to 0.33 (most diverse).

Diversity is a strength, not a verdict on any individual dog. Lower diversity means it's worth paying attention to recessive-risk testing — not that a dog is doomed.

Cluster structure
Splits into two genetic sub-populations
Intra-breed RMS distance: 22.58 · likely working/show-line, regional, or kennel lineage split.
What does within-breed variation mean?

How much individual dogs within the breed differ from each other genetically.

How to read it: Higher = more internal variety among individuals of the breed.

Sensitive to how many dogs of the breed we've sampled.

Related breeds
Built from
Gave rise to
Close cousins
Distant kin · one shared founding ancestor
In the Working group
Explore the full lineage map →
VBO foundation stock (breeding records) · AKC breed group
Relatedness is documented lineage + kennel family. Genetic-ancestry distance measures diversity, not kinship, so it isn't used here.
How long they live
9.3years (life expectancy)
95% CI 9–9.8 · VetCompass, McMillan 2024, n=1,129. source
What does typical lifespan mean?

The median age dogs of the breed tend to reach.

How to read it: Higher = longer-lived. Compare to longevity-for-size to see whether it's just a size effect.

Drawn from population lifespan records; individual dogs vary widely with care, genetics, and luck.

Trait genetics
Allele frequencies at named morphology loci

Frequency of the alternate allele in this breed at each locus's representative SNP.

Body size
IGF142%
HMGA2100%
SMAD280%
LCORL41%
STC226%
ADAMTS1731%
Leg length
FGF4·CFA1854%
FGF4·CFA1285%
Coat
RSPO289%
FGF577%
KRT7199%
MC1R74%
Ear set
MSRB3100%
Skull shape
BMP3100%
SMOC213%
n = 37 dogs · moderate confidence · CanVAS (Brundage 2026) · Sniff Atlas
Names & origins

Other names

The Saint Bernard is also recorded as Alpine Mastiff (archaic), Bernhardiner, Saint, St. Bernard, and St. Bernhardshund.

Identified as Saint Bernard (VBO:0201160) in the Vertebrate Breed Ontology (Mullen et al. 2025, CC-BY 4.0) · registry IDs FCI 61 · iDog 476 · VeNom 19047.

What you see when you look at a Saint Bernard

What does the genome say about how a Saint Bernard looks?

Saint Bernards look the way they do because of a small set of fixed and near-fixed morphology genes that, taken together, define the visible breed. Each translation below pairs the gene with the trait an owner actually sees, the breed's allele frequency at that locus, and a one-clause causal phrase.

Where the breed-defining genes act, mapped on a generic dog-body key — and how fixed each marker is in the Saint Bernard. The figure is the most-settled marker we read in that region; the full per-locus panel is below. (The silhouette is a shared anatomical guide, not this breed's outline.)

Body sizeHMGA2 · 100%Skull shapeBMP3 · 100%EarsMSRB3 · 100%Leg lengthFGF4 CFA12 · 85%Coat & colorKRT71 · 99%
CanVAS trait-locus panel (Brundage 2026)
15 morphology markers read across 5 regions. Allele frequency = how fixed a marker is in this breed, not whether your dog carries it.

Size and build

IGF1 sits at 42% for the small-body allele. IGF1 is the gene that sets dog body size from Chihuahua to Great Dane. Intermediate frequencies typically keep a breed in the mid-sized range rather than tipping toward the larger working forms.

IGF1what this gene does

IGF1 is a gene that plays a key role in determining a dog's body size. It influences how much a dog grows, affecting overall stature.

For your dog: Knowing about IGF1 gives you insight into your dog's size traits, but it’s just one part of the bigger picture when it comes to their health and care.

Full IGF1 gene page →

HMGA2 is near-fixed at 100%, reinforcing the breed's size signal through a second locus on chromosome 10.

HMGA2what this gene does

HMGA2 is a gene that influences body size in dogs, helping determine how big or small a dog grows.

For your dog: Knowing about HMGA2 helps you appreciate the genetic factors behind your dog's size, but it doesn't signal any health issues.

Full HMGA2 gene page →

SMAD2 sits at 80% at the chromosome-7 height locus.

SMAD2what this gene does

SMAD2 is a gene involved in regulating body size by influencing how cells grow and develop.

For your dog: Knowing about SMAD2 helps understand your dog's size traits but isn't linked to health issues; no immediate action needed.

Full SMAD2 gene page →

LCORL sits at 41% at the NCAPG/LCORL height locus on chromosome 3.

LCORLwhat this gene does

LCORL is a gene that influences body size in dogs. It helps determine how big or small a dog might grow.

For your dog: Knowing about LCORL helps you appreciate the genetic factors behind your dog's size, but it’s just one piece of the bigger picture when it comes to health and care.

Full LCORL gene page →

STC2 is at 26%, leaving the growth-axis signal to other loci.

ADAMTS17 sits at 31%. ADAMTS17 is a body-size locus also linked to lens disorders.

ADAMTS17what this gene does

ADAMTS17 is a gene that influences body size and also plays a role in certain eye conditions. It affects the structure of tissues in the eye and elsewhere in the body.

For your dog: If your dog belongs to a breed known to carry ADAMTS17 variants, it’s worth discussing genetic testing and eye exams with your vet to stay ahead of potential issues.

Full ADAMTS17 gene page →

Leg length

The FGF4 retrogene on chromosome 18 sits at 54%. This is the leg-length variant. The intermediate frequency means some dogs in this breed carry the short-legged allele and some do not.

The FGF4 retrogene on chromosome 12 is near-fixed at 85%, the chondrodystrophic variant associated with intervertebral disc disease risk in breeds that carry it.

Coat type, length, and color

RSPO2 is near-fixed at 89% for the furnishings allele, the genetic basis of the eyebrows-and-mustache pattern seen in Schnauzers and Wheaten Terriers.

RSPO2what this gene does

RSPO2 influences the texture and appearance of a dog's coat, particularly the presence of 'furnishings' like mustaches and eyebrows. It helps determine whether a dog has that distinctive wiry or textured look.

For your dog: If your dog has those wiry eyebrows or a mustache, RSPO2 is part of the reason—no health worries, just a coat feature worth knowing about.

Full RSPO2 gene page →

FGF5 sits at 77% for the long-coat variant. Coat length is influenced by other loci as well, so intermediate FGF5 frequencies do not always correspond to intermediate visible coat lengths.

FGF5what this gene does

FGF5 is a gene that influences the length of a dog's coat. It acts like a natural switch, telling hair follicles when to stop growing longer fur.

For your dog: If your dog has a notably long or short coat, FGF5 is likely part of the reason—no action needed, but it’s a neat genetic detail to know.

Full FGF5 gene page →

KRT71 is near-fixed at 99% for the wavy/curly variant. Coat curl phenotype varies across breeds at this fixation depending on modifier loci, and visible expression is not always curled even when the locus is fixed.

KRT71what this gene does

KRT71 is a gene that influences the curliness of a dog's coat. It helps determine whether a dog's fur is straight or has a distinctive curl.

For your dog: If your dog has a curly coat, KRT71 is likely part of the reason; it’s a natural variation, not a health concern.

Full KRT71 gene page →

MC1R sits at 74% at the representative SNP. MC1R controls the switch between red-to-gold pigment and black-to-brown pigment, with the e/e homozygous genotype producing the gold-to-red spectrum. Substrate frequencies at this SNP depend on the array's polarity, so visible coat color in the breed is a more reliable indicator than this single number.

MC1Rwhat this gene does

MC1R is a gene that influences coat color in dogs, affecting how pigments are produced in the fur.

For your dog: Knowing about MC1R gives insight into your dog's coat color but doesn't relate to health issues.

Full MC1R gene page →

Ears

MSRB3 is at 100% for the drop-ear allele, the genetic basis of the breed's signature dropped ear set.

MSRB3what this gene does

MSRB3 is a gene involved in the development of ear shape and structure in dogs.

For your dog: Understanding MSRB3 helps explain why your dog's ears look the way they do, but it isn't linked to any health issues.

Full MSRB3 gene page →

Skull shape

BMP3 is at 100%, contributing to the breed's brachycephalic skull shape.

BMP3what this gene does

BMP3 is a gene that influences the shape of a dog's skull, particularly contributing to a shorter, broader head shape known as brachycephaly.

For your dog: If your dog has a broad, short skull, it's worth discussing with your vet how this might impact their health, even though BMP3 isn't directly tied to illness.

Full BMP3 gene page →

SMOC2 is at 13%, leaving the breed in the long-headed dolichocephalic form.

SMOC2what this gene does

SMOC2 influences the shape of a dog's skull, particularly affecting how flat or short the face appears.

For your dog: If your dog has a short nose, it's worth discussing with your vet how this trait might impact their health over time.

Full SMOC2 gene page →
Mendelian-disease genetics

What genetic diseases do Saint Bernards carry?

From a panel of 250 Mendelian-disease variants screened in 1,054,293 dogs (Donner et al. 2023), Saint Bernards carry 9 of them at observable frequency. Carrier frequency is not clinical risk. Most recessive variants require two copies for disease expression; many dominant variants show incomplete penetrance. Read this as a population fingerprint of what's in the gene pool, not a per-dog prediction.

Degenerative Myelopathy (DM)
Autosomal recessive (Incomplete penetrance)
low 1.2%
n = 721 dogs · 1 variant tested · OMIA:000263-9615 · omia.org →
SOD1what this gene does

SOD1 is a gene that helps protect cells from damage caused by harmful molecules called free radicals.

For your dog: If your dog is a carrier of SOD1 variants, it's worth discussing with your vet, but remember carrier status doesn't mean your dog will get the disease.

Cystinuria Type I-B (SLC7A9 p.A217T)
Autosomal recessive (Incomplete penetrance)
low 0.97%
n = 721 dogs · 2 variants tested · OMIA:001880-9615 · omia.org →
SLC7A9what this gene does

SLC7A9 is a gene that helps transport certain amino acids in the kidneys. It plays a role in how the body handles cystine, an amino acid that can form crystals.

For your dog: If your dog is a carrier, it’s worth discussing with your vet to monitor urinary health and catch any issues early.

Cone-Rod Dystrophy (cord1-PRA/crd4)
Autosomal recessive (Incomplete penetrance)
low 0.56%
n = 720 dogs · 1 variant tested · OMIA:001432-9615 · omia.org →
RPGRIP1what this gene does

RPGRIP1 is a gene involved in the function of photoreceptor cells in the eye, which help dogs see in different light conditions.

For your dog: If your dog belongs to a breed known to carry RPGRIP1 mutations, it’s worth discussing with your vet to understand the risks and monitor eye health.

Collie Eye Anomaly (CEA)
Autosomal recessive
low 0.35%
n = 721 dogs · 1 variant tested · OMIA:000218-9615 · omia.org →
NHEJ1what this gene does

NHEJ1 is a gene involved in repairing breaks in DNA, helping maintain the integrity of genetic information in cells.

For your dog: If your dog belongs to one of the breeds known to carry this gene variant, it's worth discussing testing with your vet to understand any potential eye health risks.

Progressive Rod-Cone Degeneration (prcd-PRA)
Autosomal recessive
low <0.1%
n = 718 dogs · 1 variant tested · OMIA:001298-9615 · omia.org →
PRCDwhat this gene does

PRCD is a gene involved in the health of a dog's retina, the part of the eye that detects light and helps with vision.

For your dog: If your dog belongs to a breed known to carry PRCD changes, it's worth discussing eye health and potential genetic testing with your vet.

Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM)
Autosomal recessive
low <0.1%
n = 721 dogs · 1 variant tested · OMIA:002365-9615 · omia.org →
RBM20what this gene does

RBM20 is a gene that helps control how the heart muscle builds and repairs itself. It plays a key role in keeping the heart's pumping function strong.

For your dog: If you have a dog from these breeds, it’s worth discussing heart health with your vet, especially as your dog ages.

Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related)
Autosomal dominant (Incomplete penetrance)
low <0.1%
n = 721 dogs · 2 variants tested · OMIA:000162-9615 · omia.org →
PDK4what this gene does

PDK4 helps regulate how cells use energy, especially in the heart muscle.

For your dog: If your dog is one of the breeds known to carry this gene, it’s worth discussing heart health with your vet, but being a carrier doesn’t mean your dog will develop disease.

Hyperuricosuria (HUU)
Autosomal recessive
low <0.1%
n = 721 dogs · 1 variant tested · OMIA:001033-9615 · omia.org →
SLC2A9what this gene does

SLC2A9 is a gene that helps regulate uric acid levels in a dog's body. It plays a role in how the kidneys handle this substance.

For your dog: If your dog is one of the breeds known to carry this gene variant, it’s worth discussing with your vet to understand any potential urinary health concerns.

Ichthyosis (Discovered in the Golden Retriever)
Autosomal recessive
low <0.1%
n = 721 dogs · 1 variant tested · OMIA:001588-9615 · omia.org →
PNPLA1what this gene does

PNPLA1 is a gene involved in maintaining the skin's barrier by helping produce essential fats that keep the skin healthy and hydrated.

For your dog: If your dog is from a breed known to carry PNPLA1 variants and shows persistent dry, flaky skin, it's worth discussing with your vet to understand if genetics might be playing a role.

Source: Donner J et al. 2023. Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics 19(2):e1010651 · Evidence: Limited (DTC ascertainment, tag-SNP proxy) · Confounding MEDIUM · License CC-BY-4.0 · Phene IDs from OMIA (Sydney School of Veterinary Science, The University of Sydney; DOI 10.25910/2AMR-PV70).
Sample size in this breed: 721 dogs from the Donner 2023 cohort.
Comparative oncology

Saint Bernards are a natural model for human cancer.

Some cancers appear in Saint Bernards and in people driven by the same somatically-altered genes, cohort by cohort and cited on both sides. That makes this breed part of how we understand, and one day treat, the human disease. This is not a prediction about your dog, it is a window into the biology we share.

The dog and human osteosarcoma model →

Which Mendelian variants matter most for Saint Bernards?

Saint Bernards tested in the Donner cohort (n=721) show a remarkably low burden of screened Mendelian variants. The variants listed above account for the confirmed carriers in the Donner cohort. None reach 2% frequency. The breed’s genetic bottleneck is real and tight: 26 of the 37 atlas dogs descend from a single 2016 founder cohort.

Degenerative Myelopathy (DM)

Degenerative myelopathy in Saint Bernards is an autosomal-recessive-with-incomplete-penetrance spinal-cord degeneration. Affected dogs lose hind-limb coordination and progressive mobility over months to years. In dogs that do become symptomatic, signs typically appear in middle age or later (Awano et al. 2009, PNAS 106:2794-2799). Saint Bernards carry the variant at 1.2% frequency (Donner 2023, n=721). The incomplete penetrance means not every dog with two copies becomes symptomatic.

Testing is available through commercial DNA labs. The gene symbol is SOD1.

Cystinuria Type I-B (SLC7A9 p.A217T)

Cystinuria Type I-B in Saint Bernards is autosomal recessive with incomplete penetrance, caused by a specific variant in SLC7A9. It causes excess urinary cystine excretion and predisposes affected dogs to bladder or kidney stones. Saint Bernards carry this variant at 0.97% frequency (Donner 2023, n=721).

Not all dogs with two copies form stones, which is why incomplete penetrance describes the inheritance. Affected dogs are managed with diet (low-protein, alkalinizing) and monitoring. Testing is available.

Cone-Rod Dystrophy (cord1-PRA/crd4)

Cone-rod dystrophy in Saint Bernards is autosomal recessive with incomplete penetrance, affecting photoreceptor function and causing progressive vision loss. Saint Bernards carry the variant at 0.56% frequency (Donner 2023, n=720).

Testing is available. The gene implicated is RPGRIP1.

Collie Eye Anomaly (CEA)

Collie eye anomaly in Saint Bernards is autosomal recessive. It causes abnormal development of the choroid and retina, ranging from asymptomatic to vision-threatening depending on severity. Saint Bernards carry the variant at 0.35% frequency (Donner 2023, n=721).

Testing is available. The gene is NHEJ1.

How should I test my Saint Bernard?

The carrier frequencies are so low that routine screening of these variants (DM, cystinuria, cord1-PRA, CEA, prcd-PRA, and the two DCM-related variants) is a courtesy to the breed, not an urgent necessity for most owners. For breeding stock, a panel covering these six is the standard practice. The Orthopedic Foundation for Animals recommends hip and elbow screening as well, given the breed’s size.

What should I feed a Saint Bernard?

Feeding a Saint Bernard well means feeding for a breed that typically reaches 140 to 180 pounds at adulthood (AKC breed standard), grows to full size over roughly 18 to 24 months, and carries a median lifespan of 9.3 years (atlas data). The growth rate is steep and the joint load is high.

Controlled calcium and phosphorus during growth are non-negotiable. Saint Bernard puppies undergo one of the fastest growth trajectories in the dog world. The National Research Council’s 2006 nutrient standards recommend a calcium-to-phosphorus ratio of 1.1:1 to 2:1 and an absolute calcium level of 1.2% to 1.8% of dry matter for large-breed puppies. A formulation designed for giant-breed growth, not all-life-stages, is the right choice for the first 18 months. Excess calcium during growth predisposes to developmental orthopedic disease and joint dysplasia; undershooting is equally harmful. Work with a veterinarian or board-certified veterinary nutritionist to match the formula to the pup’s growth curve.

Adult-life weight management is the single largest determinant of joint longevity and lifespan. Saint Bernards are prone to obesity, which compounds hip and elbow stress. The breed’s 9.3-year median lifespan is already among the shortest of large breeds. Overweight dogs of giant breeds develop mobility problems earlier and face shorter lifespans, a pattern documented across large-breed cohorts (German et al. 2012, Vet J 192:428-434). Measure portions against the dog’s actual activity level, not the kibble bag’s guidelines. A lean body condition score (3/9 on the Purina scale, visible ribs without pressing) extends years.

Cardiac screening is essential; feeding adjustments follow veterinary findings. Saint Bernards are a giant breed with a real incidence of dilated cardiomyopathy, though the substrate shows variant carriers are rare (all at <0.1%). A baseline cardiac evaluation at age 3 to 4 and periodic re-screening thereafter is a reasonable precaution for a giant breed; consult your veterinarian or the ACVIM cardiology consensus guidelines for specifics. If a vet detects a murmur or cardiomegaly, a taurine-supplemented adult formula becomes the default; discuss specific targets with a board-certified veterinary nutritionist or cardiologist. Grain-inclusive formulations with proven taurine supplementation are the conservative choice.

The cystinuria carrier frequency is so low (0.97%) that diet-based stone prevention is not a breed-wide concern. If your Saint Bernard is identified as a two-copy carrier, a low-protein, alkalinizing diet and regular urinalysis monitoring are the management tools.

What we don’t know

The Saint Bernard cohort in the Donner study is small (37 atlas dogs, though 721 were genotyped). The founder structure is very tight (26 of 37 from a single 2016 source). We do not yet know whether this genetic narrowness masks additional recessive-disease risk in the breeding population, or whether the breed’s limited public health reporting simply reflects the fact that no large-scale prospective health survey has been conducted in Saint Bernards the way the Golden Retriever Lifetime Study was.

The breed’s lifespan (9.3 years median) is short for a giant breed. The causes are not yet clear from published literature. Possible contributors include cancer incidence, cardiac disease, joint failure, and founder effects, but no comprehensive epidemiological analysis has been published.

Frequently asked questions about Saint Bernards

How long do Saint Bernards live? The atlas median lifespan is 9.3 years (sniff.world atlas data). Giant breeds generally live 7 to 12 years; Saint Bernards sit at the shorter end of that range.

What is the most common genetic disease in Saint Bernards? Based on the Donner cohort (n=721), degenerative myelopathy is the most common, at 1.2% carrier frequency. It is an autosomal-recessive condition that causes progressive spinal-cord degeneration in middle-aged to older dogs.

Should I do a DNA test on my Saint Bernard? For breeding stock, yes. A panel covering degenerative myelopathy, cystinuria, cone-rod dystrophy, Collie eye anomaly, and the two DCM variants is standard. The carrier frequencies are low, but genetic testing helps maintain transparency in breeding decisions.

Are Saint Bernards prone to hip dysplasia? Yes. The Orthopedic Foundation for Animals reports a 25.2% hip dysplasia prevalence among Saint Bernards (OFA breed statistics, ofa.org/diseases/hip-dysplasia/). Elbow dysplasia is also present at meaningful frequency. Screening of both hips and elbows is recommended for breeding stock.

What size will my Saint Bernard puppy be at adulthood? Most Saint Bernards reach 140 to 180 pounds (AKC breed standard). The allele frequencies for size genes (IGF1 at 42%, HMGA2 at 100%, SMAD2 at 80%) indicate that giant size is the near-fixed trait in the breed. Feeding for that trajectory from birth is essential.

What is the best diet for a Saint Bernard? A large-breed puppy formula with controlled calcium (1.2% to 1.8% dry matter) and a calcium-to-phosphorus ratio of 1.1:1 to 2:1 during growth. After 18 months, a high-quality adult maintenance formula with portion control for weight management. If cardiac disease is detected, taurine supplementation becomes a priority.

Do Saint Bernards need any special exercise routine? Saint Bernards are a working-origin breed but modern pets require moderate, consistent exercise appropriate to their age and condition. Puppies should not do heavy jumping or long-distance running until growth plates close (around 18 to 24 months), as premature exertion compounds dysplasia risk. Adult Saint Bernards are prone to heat intolerance due to their size and coat, so exercise in cool conditions is important.

Are Saint Bernards good with children? Saint Bernards have a long history as rescue and family dogs and are generally patient with children. Their large size means supervision with young children is always necessary to avoid accidental injury from a tail or a lean. Breed temperament is not a genetic concern in this population.

A gift to human medicine

Saint Bernards are a natural model for human disease

Because the same genes cause the same conditions across species, the inherited conditions documented in Saint Bernards help researchers understand, and work toward treating, the human diseases they model. This is the dog advancing human medicine. The breed models the human disease; it does not have it, and this is not a prediction for your dog.

Human equivalents via OMIA → Mondo / OMIM. Model-of, not identity.
Documented in OMIA

Every condition recorded in the Saint Bernard

Beyond the testable carriers above, OMIA's literature catalogue records 11 genetic conditions in the Saint Bernard, 9 of which have a known human equivalent. This is the documented landscape across all Saint Bernards ever studied, not a prediction for any one dog.

Online Mendelian Inheritance in Animals (OMIA); Nicholas, Tammen & Sydney Informatics Hub, DOI 10.25910/2AMR-PV70
Documented in the breed's literature is not carrier status and not a forecast for an individual dog. Human equivalents are mapped via Mondo/OMIM. Carrier frequencies (above) are the separately-measured testable subset (Donner 2023).
The data behind this page

Where every number on this page came from.

This page draws on three primary data sources. Carrier frequencies for the Mendelian section come from Donner et al. 2023 (CC-BY-4.0). We grade these data at evidence Limited because the cohort is a direct-to-consumer ascertainment, which biases toward owners who chose to test their dogs. The panel also uses tag-SNP proxies for some variants rather than direct causal-variant assays. Limited is a study-design grade, not a quality grade: the Donner cohort is the largest open canine-genotype dataset in existence and we are grateful for it. We rate the confounding MEDIUM.

Population-genetic dimensions (heterozygosity, intra-breed PCA distance, nearest neighbors, trait-locus frequencies) come from CanVAS (Brundage 2026), harmonized through the Sniff Atlas. The exact release date and verification commit are pinned at the bottom of the page so a researcher can trace a number back to a specific snapshot. The disease-gene-variant graph comes from OMIA (Online Mendelian Inheritance in Animals; Nicholas, Tammen, and the Sydney Informatics Hub at the Sydney School of Veterinary Science, The University of Sydney; retrieved April 2026, DOI 10.25910/2AMR-PV70).

What this page does not yet have. Inheritance modes and per-disease penetrance evidence from Donner 2023 are now in the structured data for every variant the panel covers. Mondo, OMIM, Ensembl, and HGNC cross-references on gene pages remain pending, they arrive in December 2026 alongside the imputed 9.67M-variant CanVAS dataset via the OMIA SQL dump absorption. Until then, gene IDs carry NCBI Gene and OMIA phene URLs only; the wider human-homolog and disease-ontology cross-reference set fills in with that release.

How to cite this page. The computed dimensions on this page are derived from the open Sniff Atlas v1.0.1 (Gehring 2026, doi:10.5281/zenodo.20566358, CC-BY 4.0). Full citation formats including BibTeX, RIS, and CITATION.cff at sniff.world/cite.

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References
  1. Donner J, Freyer J, Davison S, Anderson H, Blades M, Honkanen L, et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics 19(2):e1010651. doi:10.1371/journal.pgen.1010651
  2. Brundage J, et al. (2026). CanVAS: a harmonized canine variant atlas. bioRxiv. doi:10.64898/2026.04.13.718238
  3. Nicholas, F.W., Tammen, I., & Sydney Informatics Hub. (2026). Online Mendelian Inheritance in Animals (OMIA) [dataset]. The University of Sydney. https://omia.org. doi:10.25910/2AMR-PV70 (retrieved April 2026).
Last updated
Sources: CanVAS (Brundage 2026) · Donner 2023 · OMIA