Table 2. Top 30 most frequently observed disease variants in mixed breed dogs.
| Mixed breed dogs | Combined purebred study sample | |||||
|---|---|---|---|---|---|---|
| Tested disease variant | OMIAa entry | Breed(s) variant was previously characterized in | Rank | Disease allele frequency [%] | Rank | Disease allele frequency [%] |
| Degenerative Myelopathy (DM) | 000263–9615 | >120 breeds | 1 | 7.771 | 1 | 5.414 |
| Cone-Rod Dystrophy (cord1-PRA/crd4)b | 001432–9615 | >5 breeds | 2 | 3.664 | 3 | 1.519 |
| Progressive Rod-Cone Degeneration (prcd-PRA) | 001298–9615 | >30 breeds | 3 | 3.418 | 2 | 1.746 |
| Hyperuricosuria (HUU) | 001033–9615 | >30 breeds | 4 | 2.155 | 5 | 1.319 |
| Collie Eye Anomaly (CEA) | 000218–9615 | >10 breeds | 5 | 1.600 | 6 | 1.080 |
| Exercise-Induced Collapse (EIC) | 001466–9615 | >10 breeds | 6 | 1.131 | 7 | 1.005 |
| Multidrug Resistance 1 (MDR1 gene variant) | 001402–9615 | >15 breeds | 7 | 1.046 | 8 | 0.989 |
| von Willebrand's Disease Type 1 (vWD 1) | 001057–9615 | >20 breeds | 8 | 0.768 | 4 | 1.460 |
| Golden Retriever Ichthyosis | 001588–9615 | Golden Retriever | 9 | 0.710 | 12 | 0.699 |
| Primary Lens Luxation (PLL) | 000588–9615 | >20 breeds | 10 | 0.613 | 9 | 0.771 |
| von Willebrand's Disease Type 2 (vWD 2) c | 001339–9615 | >10 breeds | 11 | 0.595 | 10 | 0.708 |
| Factor VII Deficiency | 000361–9615 | >15 breeds | 12 | 0.487 | 11 | 0.707 |
| Neuronal Ceroid Lipofuscinosis 4A (NCL4) | 001503–9615 | American Staffordshire Terrier | 13 | 0.397 | 28 | 0.094 |
| Hypocatalasia or Acatalasemia | 001138–9615 | Beagle | 14 | 0.264 | 27 | 0.097 |
| Prekallikrein Deficiency | 000819–9615 | Shih Tzu | 15 | 0.206 | 32 | 0.075 |
| Primary Open Angle Glaucoma (POAG) | 001870–9615 | Norwegian Elkhound | 16 | 0.183 | 17 | 0.321 |
| Cone-Rod Dystrophy 1 (crd1) | 001674–9615 | American Staffordshire Terrier | 17 | 0.172 | 51 | 0.026 |
| Skeletal Dysplasia 2 (SD2) | 001772–9615 | Labrador Retriever | 18 | 0.151 | 21 | 0.163 |
| Primary Hereditary Cataract (PHC) | 001758–9615 | Australian Shepherd | 19 | 0.137 | 24 | 0.123 |
| Golden Retriever Progressive Retinal Atrophy 2 (GR_PRA 2) | 001984–9615 | Golden Retriever | 20 | 0.136 | 52 | 0.026 |
| Centronuclear Myopathy (CNM) | 001374–9615 | Labrador Retriever | 21 | 0.121 | 25 | 0.117 |
| Craniomandibular Osteopathy (CMO) | 000236–9615 | Scottish Terrier, West Highland White Terrier, Cairn Terrier | 22 | 0.114 | 14 | 0.362 |
| Cystinuria Type II-A | 001879–9615 | Australian Cattle Dog | 23 | 0.105 | 54 | 0.026 |
| Persistent Müllerian Duct Syndrome (PMDS) | 000791–9615 | Miniature Schnauzer | 24 | 0.096 | 31 | 0.080 |
| Protein Losing Nephropathy (PLN); NPHS1 gene variant | 001326–9615 | Irish Soft Coated Wheaten Terrier, Airedale Terrier | 25 | 0.078 | 16 | 0.338 |
| Hereditary Nasal Parakeratosis (HNPK) | 001373–9615 | Labrador Retriever | 26 | 0.075 | 22 | 0.160 |
| Imerslund-Gräsbeck Syndrome (IGS) | 001786–9615 | Border Collie | 27 | 0.075 | 54 | 0.026 |
| Neuronal Ceroid Lipofuscinosis 5 (NCL5) | 001482–9615 | Border Collie | 28 | 0.060 | 94 | 0.000 |
| Macrothrombocytopenia | 001001–9615 | Norfolk Terrier, Cairn Terrier | 28 | 0.060 | 15 | 0.350 |
| Primary Hereditary Cataract (PHC) | 001758–9615 | Boston Terrier, Staffordshire Bull Terrier, French Bulldog | 30 | 0.060 | 35 | 0.064 |
a Online Mendelian Inheritance in Animals (http://omia.angis.org.au)
b Note variant originally characterized with autosomal recessive inheritance, but effect influenced by modifier variants [21,22]
c Note causality of variant under question [23]