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German Shorthaired Pointer

German Shorthaired Pointer
Photo: Bonnie van den Born, http://www.bonfoto.nl / CC BY-SA 3.0 · Wikimedia

12 German Shorthaired Pointers in the atlas. Every number on this page has a source.

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

Also known as Deutsch Kurzhaar, Deutscher kurzhaariger Vorstehhund, DK, and German Short- Haired Pointing Dog.

See in the atlas → From CanVAS
The plain version

German Shorthaired Pointers have a moderately varied genetic background. They share some similarities with breeds like the Vizsla and Gordon Setter. While details about their size and lifespan vary, one thing to note is that their gene pool includes a risk factor linked to a heart condition seen in some other breeds. If you have concerns, it’s a good idea to talk with your vet or consider genetic testing—this is about breed tendencies, not a prediction for any one dog. Since the information comes from a small group, the picture might change as more data becomes available.

What the atlas says about German Shorthaired Pointer

In the atlas, the German Shorthaired Pointer clusters consistently as German Shorthaired Pointer (100% of the 12 dogs here). Genetic diversity is high (mean heterozygosity 0.33), reflecting either a mixed-breed cluster or breeds with broad genetic backgrounds. At the trait loci, HMGA2 runs higher than the atlas average (92% here vs 56%); MC1R runs higher than the atlas average (96% here vs 62%).

Mean heterozygosity is 0.330, notably high, indicates broad genetic background. Only 12 dogs of this breed in the atlas, modestly sampled.

Genetic dimensions · CanVAS atlas

What the genome says about German Shorthaired Pointer

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

These figures are computed from only 12 German Shorthaired Pointers in the atlas. Treat them as provisional. They sharpen as more dogs are added.
Dogs in the Atlas
12Founders
12 from Hayward2016
Genetic diversity

Not enough dogs in the atlas yet (n=12) for a reliable diversity figure. It fills in as more are added.

Mean heterozygosity across the breed. Too few dogs in this breed (<20) to rank.
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

Not enough dogs in the atlas yet (n=12) to resolve cluster structure. It fills in as more are added.

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
Close cousins
In the Sporting 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
13.4years (life expectancy)
95% CI 13.3–13.6 · VetCompass, McMillan 2024, n=3,313. 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.

Not enough German Shorthaired Pointers in the atlas yet (n=12) for reliable allele frequencies at these loci. It fills in as more are added.

n = 12 dogs · low confidence · CanVAS (Brundage 2026) · Sniff Atlas
Names & origins

Other names

The German Shorthaired Pointer is also recorded as Deutsch Kurzhaar, Deutscher kurzhaariger Vorstehhund, DK, German Short- Haired Pointing Dog, GSP, and Kurzhaar.

Identified as German Shorthaired Pointer (VBO:0200583) in the Vertebrate Breed Ontology (Mullen et al. 2025, CC-BY 4.0) · registry IDs FCI 119 · iDog 111 · VeNom 14557.

What you see when you look at a German Shorthaired Pointer

What does the genome say about how a German Shorthaired Pointer looks?

German Shorthaired Pointers 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 German Shorthaired Pointer. 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 · 92%Skull shapeSMOC2 · 79%EarsMSRB3 · 100%Leg lengthFGF4 CFA12 · 83%Coat & colorMC1R · 96%
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 is at 25% for the small-body allele, leaving the breed firmly in the larger end of the dog body-size spectrum.

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 92%, 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 50% 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 54% 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 sits at 79%.

ADAMTS17 sits at 75%. 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 75%. 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 sits at 83%, the chondrodystrophic variant.

Coat type, length, and color

RSPO2 sits at 42% for the furnishings variant. Furnishings (the eyebrow-and-mustache pattern seen in Schnauzers and Wheaten Terriers) vary across the population at this intermediate frequency, and visible expression depends on the specific allele combination each dog carries.

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 75% 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 sits at 83% for the wavy/curly variant. Coat curl varies across individuals at this intermediate frequency, and visible expression is also influenced by modifier loci.

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 is at 96% at the representative SNP. MC1R controls the switch between red-to-gold and black-to-brown pigment, with the e/e homozygous genotype producing the gold-to-red spectrum by blocking eumelanin (black and brown pigment).

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 sits at 58%, contributing to the breed's moderate, mesaticephalic head shape rather than the extreme brachycephalic form.

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 sits at 79%, contributing to the breed's moderate head shape.

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 German Shorthaired Pointers carry?

From a panel of 250 Mendelian-disease variants screened in 1,054,293 dogs (Donner et al. 2023), German Shorthaired Pointers carry 13 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.

Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related)
Autosomal dominant (Incomplete penetrance)
moderate 1.1%
n = 1,252 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.

Factor VII Deficiency
Autosomal recessive
low 2.8%
n = 1,252 dogs · 1 variant tested · OMIA:000361-9615 · omia.org →
F7what this gene does

The F7 gene helps produce a protein important for blood clotting, which stops bleeding when dogs get injured.

For your dog: If your dog is from a breed known to carry F7 variants, it's worth mentioning to your vet before any surgery or if you notice unusual bleeding.

Degenerative Myelopathy (DM)
Autosomal recessive (Incomplete penetrance)
low 2.5%
n = 1,252 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.

Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle)
Autosomal recessive
low 2.3%
n = 65 dogs · 1 variant tested · OMIA:002203-9615 · omia.org →
TNXBwhat this gene does

TNXB is a gene that helps produce a protein important for connective tissue, which supports skin, joints, and other structures in the body.

For your dog: If your dog is from a breed known to carry TNXB variants, it's worth discussing with your vet, especially if you notice unusual joint flexibility or skin issues.

Hyperuricosuria (HUU)
Autosomal recessive
low 0.72%
n = 1,252 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.

Von Willebrand's Disease, Type 2 (vWD 2)
Autosomal recessive
low 0.44%
n = 1,252 dogs · 1 variant tested · OMIA:001339-9615 · omia.org →
Cone Degeneration (Discovered in the Alaskan Malamute)
Autosomal recessive
low 0.28%
n = 1,252 dogs · 2 variants tested · OMIA:001365-9615 · omia.org →
Progressive Rod-Cone Degeneration (prcd-PRA)
Autosomal recessive
low 0.20%
n = 1,248 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.

Acral Mutilation Syndrome (AMS)
Autosomal recessive
low 0.12%
n = 1,252 dogs · 1 variant tested · OMIA:001514-9615 · omia.org →
GDNFwhat this gene does

GDNF is a gene that helps support nerve cells, especially those involved in sensing pain and movement.

For your dog: If your dog is from a breed that can carry this gene change, it’s worth asking your vet about testing to understand any potential risks.

Ichthyosis (Discovered in the Golden Retriever)
Autosomal recessive
low 0.12%
n = 1,252 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.

Stargardt Disease (Discovered in the Labrador Retriever)
Autosomal recessive
low 0.12%
n = 1,252 dogs · 1 variant tested · OMIA:002179-9615 · omia.org →
ABCA4what this gene does

ABCA4 is a gene that helps manage the transport of molecules in the retina, the part of the eye responsible for vision.

For your dog: If your dog is from a breed known to carry ABCA4 variants, it's worth discussing eye health with your vet, especially as they age.

Von Willebrand's Disease, Type 1 (vWD 1)
Autosomal recessive
low <0.1%
n = 1,252 dogs · 1 variant tested · OMIA:001057-9615 · omia.org →
Cone-Rod Dystrophy (cord1-PRA/crd4)
Autosomal recessive (Incomplete penetrance)
low <0.1%
n = 1,248 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.

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: 1,252 dogs from the Donner 2023 cohort.

Which Mendelian variants matter most for German Shorthaired Pointers?

The Mendelian-disease table above lists variants screened in 1,252 German Shorthaired Pointers (Donner 2023). The breed’s carrier landscape is unusually sparse. Six variants appear at frequencies above 0.2%, and only two rise above 2%.

Dilated cardiomyopathy risk factor in German Shorthaired Pointers is an autosomal dominant variant with incomplete penetrance, discovered first in Doberman Pinschers. The variant is carried in the TTN gene and predisposes to heart-chamber enlargement and reduced contractility. Not every carrier develops clinical disease. 1.1% of German Shorthaired Pointers in the Donner cohort carry the variant (n=1,252). The carrier frequency is low, but the disease itself is serious when it manifests.

Testing is available through most commercial DNA labs. Breeding stock should be tested and at-risk dogs should receive annual or biannual echocardiography.

Factor VII Deficiency

Factor VII Deficiency in German Shorthaired Pointers is an autosomal recessive bleeding disorder. The deficiency impairs the extrinsic coagulation pathway, causing prolonged bleeding after trauma or surgery. 2.8% of German Shorthaired Pointers in the Donner cohort carry one copy (n=1,252). Affected dogs (homozygous) are at risk for excessive bleeding after trauma or surgery, but penetrance is incomplete; only 6 of 33 at-risk dogs in the Donner phenotype-confirmation dataset showed clinical signs (Donner 2023, max 18% penetrance).

Testing is available. Affected dogs and their carriers should be flagged for veterinary anesthesia and surgery planning.

Degenerative Myelopathy (DM)

Degenerative myelopathy in German Shorthaired Pointers is an autosomal recessive disorder with incomplete penetrance. The disease causes progressive degeneration of the spinal cord, leading to hind-limb weakness, loss of coordination, and eventual paralysis. Onset typically occurs in middle age. 2.5% of German Shorthaired Pointers carry the variant (n=1,252).

Testing is available. Carriers should be aware of the risk, but the incomplete penetrance means not all carriers become symptomatic.

Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome in German Shorthaired Pointers is an autosomal recessive connective-tissue disorder affecting collagen synthesis. Affected dogs have hyperextensible skin, joint instability, and fragile blood vessels. 2.3% of German Shorthaired Pointers tested carry the variant (n=65). The sample size for this variant is smaller than for the others on this list, reflecting lower testing uptake.

Testing is available. Affected dogs require careful surgical planning and monitoring.

How should I test my German Shorthaired Pointer?

A breed-specific panel from a CLIA-accredited lab is the practical starting point. The high-yield set for German Shorthaired Pointers is TTN (dilated cardiomyopathy risk factor), Factor VII Deficiency, Degenerative Myelopathy, and Ehlers-Danlos Syndrome. The carrier frequencies are low, but the conditions are serious enough to warrant screening breeding stock.

What should I feed a German Shorthaired Pointer?

German Shorthaired Pointers are working pointers with metabolisms tuned for all-day field work. A pet German Shorthaired Pointer eating a standard-calorie maintenance kibble in a suburban yard is being fed for a job they are not doing. Food-driven weight gain is the most common health failure in the breed outside of the genetic variants above.

The breed’s genetic disease landscape is sparse and offers less direct dietary guidance than some others. The dominant health concern is managing the working breed’s energy expenditure and preventing obesity, which amplifies joint stress and masks early signs of movement disorders like degenerative myelopathy.

Life stage matters. Puppies in this breed grow to 45 to 70 pounds, but growth is steadier and slower than in giant breeds. A large-breed puppy formula (calcium-to-phosphorus ratio between 1.1:1 and 2:1 per NRC 2006) is the right starting point from 8 weeks to 12 months. Adult maintenance from 12 months onward should match the dog’s actual activity level, not a breed average. A working German Shorthaired Pointer needs 30 to 40 percent more calories than a couch-based dog of the same weight.

Weight management is the single most important dietary lever for this breed. The combination of a working breed’s food-drive genetics and a pet environment that does not outlet that drive creates a perfect storm for obesity. Obesity in German Shorthaired Pointers accelerates joint wear, compounds any genetic predisposition to degenerative myelopathy, and increases surgical and anesthetic risk. Portion control and activity-matched calorie targets are the foundation. Avoid ad-libitum feeding.

Grain-inclusive adult diets are the practical default. The FDA’s grain-free advisory has not identified a breed-specific signal for German Shorthaired Pointers as it has for some other breeds. A grain-inclusive, taurine-supplemented formula from a manufacturer with AAFCO feeding trials is a safe and cost-effective starting point.

What we don’t know

The Donner 2023 cohort for German Shorthaired Pointers is small (12 dogs in the atlas, 1,252 genotyped). The breed’s sparse Mendelian landscape may reflect low genetic load or simply reflect the fact that few German Shorthaired Pointers have been genotyped relative to other sporting breeds. More dogs in the atlas would clarify whether the breed’s health profile is genuinely uncomplicated or whether rarer variants and polygenic conditions remain uncharacterized.

Degenerative myelopathy in German Shorthaired Pointers has not been studied in detail in the breed-specific literature. The carrier frequency (2.5%) is non-trivial, but we do not know the age of onset, the progression rate, or whether there are modifiable environmental or nutritional factors that slow decline in this breed.

The TTN-linked dilated cardiomyopathy risk factor was first discovered in Doberman Pinschers and has not been independently validated in German Shorthaired Pointers. We know it is present; we do not know its population prevalence or the true penetrance in German Shorthaired Pointers specifically.

Frequently asked questions about German Shorthaired Pointers

How long do German Shorthaired Pointers live? The breed’s median lifespan is typically cited in the 10 to 12 year range (AKC German Shorthaired Pointer breed health information, akc.org/dog-breeds/german-shorthaired-pointer/). Longevity is typical for a medium-to-large sporting breed and is not compromised by the genetic variants listed above.

What is the most common genetic disease in German Shorthaired Pointers? Factor VII Deficiency is the most common single variant by carrier frequency (2.8%, n=1,252), followed by Degenerative Myelopathy (2.5%) and Dilated Cardiomyopathy risk (1.1%). All three are rare enough that most owners will not encounter them directly.

Should I do a DNA test on my German Shorthaired Pointer? For breeding stock, a panel covering TTN (dilated cardiomyopathy risk factor), Factor VII Deficiency, Degenerative Myelopathy, and Ehlers-Danlos Syndrome is worthwhile. For pet dogs, testing is optional unless cardiac or neurological signs appear.

Are German Shorthaired Pointers prone to hip dysplasia? Hip dysplasia occurs in the breed at rates consistent with other medium-to-large sporting dogs. OFA hip-evaluation data for German Shorthaired Pointers is available at ofa.org; breed-specific prevalence should be verified there directly. A large-breed puppy formula and weight management reduce risk.

What is the best diet for a German Shorthaired Pointer? Match calorie intake to activity level. A working or highly active German Shorthaired Pointer needs 30 to 40 percent more calories than a sedentary dog of the same weight. A grain-inclusive, AAFCO-tested adult formula with controlled fat for lean dogs and higher fat for active dogs is the practical standard.

Are German Shorthaired Pointers good with kids? The breed was developed for field work and is generally tolerant and social. Supervision with young children is always recommended, as with any dog, but the breed’s temperament is not a known risk factor.

Do German Shorthaired Pointers shed? Yes. German Shorthaired Pointers have a short, dense coat and shed year-round, with heavier shedding during seasonal transitions. Regular brushing reduces loose hair indoors.

Why is my German Shorthaired Pointer gaining weight so easily? The breed was selected for high food drive and all-day energy output. A pet German Shorthaired Pointer in a suburban environment has the genetic appetite but not the outlet. Strict portion control and regular high-intensity exercise are the only effective interventions.

A gift to human medicine

German Shorthaired Pointers are a natural model for human disease

Because the same genes cause the same conditions across species, the inherited conditions documented in German Shorthaired Pointers 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 German Shorthaired Pointer

Beyond the testable carriers above, OMIA's literature catalogue records 14 genetic conditions in the German Shorthaired Pointer, 11 of which have a known human equivalent. This is the documented landscape across all German Shorthaired Pointers 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