Sheet1 Supplementary Table 3. Trait/disorder variants in dogs and their classifications from eight variant pathogenicity prediction methods. OMIA_ID Species Breed Variant Phenotype DiseaseVsTrait Gene Chr genomic position (canfam3) coding_ann protein_ann Transcript_ID Year Published PubMedID GOTermTest MutPred2_Score MutPred2_Class SIFT_Score Confidence SIFT_Class SNPs&GO_Score SNPs&GO_RI SNPs&GO_Class Panther_Score Panther_RI Panther_Class PhD_SNP_Score PhD_SNP_RI PhD_SNP_Class Provean_Score Provean_Class HumDiv_Score HumDiv_Sens HumDiv_Spec HumDiv_Class HumVar_Score HumVar_Sens HumVar_Spec HumVar_Class OMIA 001870-9615 dog Beagle Glaucoma, primary open angle disease ADAMTS10 20 p.G727R ENSCAFT00000029466.3 2011 21379321 No 0.856 Disease 0.18 Neutral 0.774 5 Disease 0.998 10 Disease 0.648 3 Disease -7.568 Disease 1.000 0.000 1.000 Disease 0.998 0.180 0.98 Disease OMIA 001870-9615 dog Norwegian Elkhound Glaucoma, primary open angle disease ADAMTS10 20 g.53101896G>A c.1357G>A p.A453T ENSCAFT00000029466 2014 25372548 No 0.853 Disease 0.01 Disease 0.84 7 Disease 0.315 4 Neutral 0.866 7 Disease -3.718 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 001976-9615 dog Basset Fauve de Bretagne Glaucoma, primary open angle, ADAMTS17-related disease ADAMTS17 3 g.40808345G>A c.1552G>A p.G518S ENSCAFT00000017051 2015 26474315 No 0.897 Disease 0 Disease 0.782 6 Disease 0.991 10 Disease 0.679 4 Disease -5.745 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 001893-9615 dog Norwich Terrier Upper airway syndrome disease ADAMTS3 13 g.61287796G>A c.2786G>A p.R929H XM_038426633.1,XP_038282561.1 2019 31095560 No 0.718 Disease 0.02 Disease 0.821 6 Disease 0.731 5 Disease 0.808 6 Disease -4.328 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 001509-9615 dog Beagle Musladin-Lueke syndrome disease ADAMTSL2 9 g.49931561C>T c.661C>T p.R221C ENSCAFT00000031449 2010 20862248 Yes 0.477 Neutral 0 Disease 0.884 8 Disease 0.683 4 Disease 0.787 6 Disease -5.259 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 001672-9615 dog Coton de Tulear Primary hyperoxaluria type I (Oxalosis I) disease AGXT 25 g.50968854G>A c.304G>A p.G102S ENSCAFT00000079467.1 2012 22486513 No 0.874 Disease 0.02 Neutral 0.934 9 Disease 0.389 2 Neutral 0.663 3 Disease -4.588 Disease 1.000 0.000 1.000 Disease 0.997 0.270 0.98 Disease OMIA 002250-9615 dog Saluki Succinic semialdehyde dehydrogenase deficiency disease ALDH5A1 35 g.22572768G>A c.752G>A p.G251D ENSCAFT00000016493.4 2020 32887425 No 0.942 Disease 0 low Disease 0.947 9 Disease 0.926 9 Disease 0.865 7 Disease -6.938 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 002162-9615 dog Karelian bear dog Hypophosphatasia disease ALPL 2 g.77561953A>C c.1442A>C p.V481G ENSCAFT00000066819.1 2019 30700765 No 0.42 Neutral 0.15 Neutral 0.906 8 Disease 0.687 4 Disease 0.639 3 Disease -2.433 Neutral 0.178 0.920 0.870 Neutral 0.080 0.920 0.67 Neutral dog 2,8 dihydroxyadeninuria disease APRT 5 g.64564628G>A c.260G>A p.R87Q ENSCAFT00000031607 2014 24359665 Yes 0.795 Disease 0 Disease 0.984 10 Disease NA NA Unclassified 0.912 8 Disease -3.978 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000666-9615 dog Miniature Pinscher Mucopolysaccharidosis VI disease ARSB 3 g.27950471G>A c.910G>A p.G304R ENSCAFT00000014585.3 2020 32985704 No 0.943 Disease 0 Disease 0.962 9 Disease 1 10 Disease 0.913 8 Disease -7.317 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 001503-9615 dog American Staffordshire terrier Neuronal ceroid lipofuscinosis, 4A disease ARSG 9 g.15071276G>A c.296G>A p.R99H ENSCAFT00000017623 2010 20679209 Yes 0.805 Disease 0 Disease 0.862 7 Disease 0.976 10 Disease 0.723 4 Disease -4.366 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000201-9615 dog German Shepherd Dog Recessive black trait ASIP 24 g.23393552C>T c.286C>T p.R96C ENSCAFT00000038625 2004 15520882 Yes 0.18 Neutral 0.17 Neutral 0.691 4 Disease 0.827 7 Disease 0.366 3 Neutral -1.009 Neutral 0.944 0.800 0.950 Disease 0.833 0.740 0.88 Disease OMIA 001471-9615 dog Standard Poodle Neonatal encephalopathy with seizures disease ATF2 36 g.19078954T>G c.152T>G p.M51R ENSCAFT00000021205 2008 18074159 No 0.846 Disease 0 Disease 0.98 10 Disease 0.673 3 Disease 0.825 6 Disease -5.035 Disease 1.000 0.000 1.000 Disease 0.991 0.500 0.95 Disease OMIA 001954-9615 dog Lagotto Romagnolo Neurodegenerative vacuolar storage disease disease ATG4D 20 g.50618958G>A c.1288G>A p.A430T ENSCAFT00000028187 2015 25875846 Yes 0.168 Neutral 0.23 Neutral 0.153 7 Neutral 0.251 5 Neutral 0.177 6 Neutral -0.621 Neutral 0.217 0.910 0.880 Neutral 0.138 0.900 0.71 Neutral Australian Cattle Dogs Neuronal ceroid lipofuscinosis disease ATP13A2 2 g.81208162C>T c.1118C>T T377I ENSCAFT00000025109.5 2019 30956123 No 0.803 Disease 0 Disease 0.975 10 Disease 0.936 9 Disease 0.853 7 Disease -5.742 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000640-9615 dog Labrador Retriever Menkes disease disease ATP7A X g.60279238C>T c.980C>T p.T327I ENSCAFT00000027345 2016 26747866 Yes 0.271 Neutral 0.01 Disease 0.793 6 Disease 0.103 8 Neutral 0.459 1 Neutral -3.851 Disease 0.929 0.810 0.940 Disease 0.813 0.750 0.87 Disease OMIA 001071-9615 dog Labrador Retriever Wilson disease disease ATP7B 22 g.225097G>A c.4358G>A p.R1384Q ENSCAFT00000006859 2016 26747866 No 0.252 Neutral 0.11 Neutral 0.509 0 Disease NA NA Unclassified 0.398 2 Neutral -0.831 Neutral 0.748 0.850 0.920 Disease 0.320 0.860 0.77 Neutral OMIA 001553-9615 dog Coton de Tulear Multifocal retinopathy 2 disease BEST1 18 g.54476143G>A c.482G>A p.G161D ENSCAFT00000025216 2007 17460247 No 0.429 Neutral 0 Disease 0.944 9 Disease 0.974 9 Disease 0.805 6 Disease -6.936 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 001551-9615 dog Brachycephaly disease BMP3 32 g.5231894C>A c.1320C>A p. F440L ENSCAFT00000014102 2012 22876193 No 0.765 Disease 0 Disease 0.846 7 Disease 0.518 0 Disease 0.545 1 Disease -5.085 Disease 1.000 0.000 1.000 Disease 0.983 0.560 0.94 Disease OMIA 001512-9615 dog Invasive transitional cell carcinoma of the bladder disease BRAF 16 g.8296284 c.1784T>A p.V595E ENSCAFT00000006306 2015 25767210 No 0.832 Disease 0 Disease 0.971 9 Disease 0.782 6 Disease 0.608 2 Disease -4.781 Disease 0.707 0.860 0.920 Disease 0.786 0.760 0.87 Disease OMIA 001820-9615 dog Parson Russell Terrier Ataxia, spinocerebellar disease CAPN1 18 g.52009339G>A c.344G>A p.C115Y ENSCAFT00000021965.4 2013 23741357 No 0.806 Disease 0 Disease 0.969 9 Disease 0.984 10 Disease 0.965 9 Disease -10.46 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 001138-9615 dog American Foxhound, Beagle Hypocatalasia disease CAT 18 g.33397548G>A c.979G>A p.A328T ENSCAFT00000011146 2000 11137458 No 0.707 Disease 0.03 Disease 0.969 9 Disease 0.732 5 Disease 0.735 5 Disease -3.289 Disease 0.052 0.940 0.830 Neutral 0.096 0.910 0.68 Neutral OMIA 002072-9615 dog Old Danish Pointing Dog Myasthenic syndrome, congenital disease CHAT 28 g.1484906G>A c.157G>A p.V53M ENSCAFT00000044328 2007 17586598 No 0.241 Neutral 0 Disease 0.314 4 Neutral NA NA Unclassified 0.427 1 Neutral -2.412 Neutral 1.000 0.000 1.000 Disease 0.997 0.270 0.98 Disease OMIA 002071-9615 dog Labrador Retriever Macular corneal dystrophy disease CHST6 5 g.75279699C>A c.814C>A p.R272S ENSCAFT00000031950.3 2016 26585178 No 0.495 Neutral 0.18 Neutral 0.928 9 Disease 0.165 7 Neutral 0.408 2 Neutral -1.536 Neutral 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000698-9615 dog Miniature Schnauzer Myotonia disease CLCN1 16 g.6366383C>T c.803C>T p.T268M ENSCAFT00000020333 1999 10452529 No 0.415 Neutral 0 Disease 0.799 6 Disease 0.465 1 Neutral 0.641 3 Disease -2.643 Disease 0.955 0.790 0.950 Disease 0.792 0.750 0.87 Disease OMIA 001443-9615 dog Australian Shepherd Neuronal ceroid lipofuscinosis, 6 disease CLN6 30 g.32247875 c.829T>C p.W277R ENSCAFT00000027690 2011 21234413 No 0.932 Disease 0 Disease 0.981 10 Disease 0.668 3 Disease 0.895 8 Disease -10.146 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 001506-9615 dog English Setter Neuronal ceroid lipofuscinosis, 8 disease CLN8 37 g.30874779T>C c.491T>C p.L164P ENSCAFT00000025898 2005 15629147 No 0.918 Disease 0 Disease 0.971 9 Disease 0.77 5 Disease 0.641 3 Disease -4.858 Disease 0.999 0.140 0.990 Disease 0.997 0.270 0.98 Disease OMIA 001481-9615 dog German Shepherd Dog Achromatopsia-2 disease CNGA3 10 g.44234861C>T c.1270C>T p.R424W ENSCAFT00000076340 2015 26407004 No 0.73 Disease 0 Disease 0.88 8 Disease 0.907 8 Disease 0.714 4 Disease -7.15 Disease 0.996 0.550 0.980 Disease 0.993 0.470 0.96 Disease OMIA 001365/001676-9615 dog German Shorthair Pointer Achromatopsia (cone degeneration, hemeralopia), GSPT disease CNGB3 19 g.32837065G>A c.784G>A p.D262N ENSCAFT00000045032 2002 12140185 No 0.909 Disease 0 Disease 0.835 7 Disease 0.939 9 Disease 0.77 5 Disease -4.985 Disease 1.000 0.000 1.000 Disease 0.996 0.360 0.97 Disease OMIA 002301-9615 Dog Leonberger, Saint Bernard, Labrador retriever Laryngeal Paralysis disease CNTNAP1 9 g.20298261C>T 2811G>A p.G937E ENSCAFG00000014854 2020 33261176 No 0.874 Disease 0 Disease 0.981 10 Disease 0.935 9 Disease 0.904 8 Disease -7.667 Disease 0.954 0.79 0.950 Disease 0.633 0.800 0.84 Disease OMIA 001772-9615 dog Labrador Retriever Skeletal dysplasia 2 (SD2) disease COL11A2 12 g.2652874G>C c.143G>C p.R48P ENSCAFT00000001407 2013 23527306 Yes 0.343 Neutral 0.39 Neutral 0.606 2 Disease 0.188 6 Neutral 0.628 3 Disease -0.679 Neutral 0.593 0.870 0.910 Disease 0.253 0.870 0.75 Neutral OMIA 000754-9615 dog Golden Retriever Osteogenesis imperfecta disease COL1A1 9 g.26193593G>C c.1145G>C p.G382A ENSCAFT00000026953.4 2000 11147834 No 0.893 Disease 0 Disease 0.977 10 Disease NA NA Unclassified 0.775 5 Disease -4.301 Disease 0.974 0.760 0.960 Disease 0.808 0.750 0.87 Disease OMIA 002165-9615 dog Mixed breed Ehlers-Danlos syndrome, classic type, 1 disease COL5A1 9 g.50832936G>A c.3781G>A p.G939R ENSCAFT00000031582.5; XM_022423936.1; XP_022279644.1 31546637 No 0.878 Disease 0 Neutral 0.81 6 Disease NA NA Unclassified 0.688 4 Disease -6.715 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.00 Disease OMIA 000341-9615 dog Golden Retriever Epidermolysis bullosa, dystrophic disease COL7A1 20 g.40538034G>A c.5716G>A p.G1906S ENSCAFT00000019781 2003 12874109 No 0.918 Disease 0.01 Disease 0.946 9 Disease 0.435 1 Neutral 0.94 9 Disease -4.011 Disease 0.980 0.750 0.960 Disease 0.907 0.690 0.90 Disease OMIA 001928-9615 dog Labrador Retriever Myasthenic syndrome, congenital disease COLQ 23 g.27176737T>C c.2762T>C p.I921T ENSCAFT00000069888.1 2014 25166616 No 0.814 Disease 0 low Disease 0.814 6 Disease 0.361 3 Neutral 0.591 2 Neutral -0.094 Neutral 0.949 0.790 0.950 Disease 0.591 0.810 0.83 Disease OMIA 001505-9615 dog American Bulldog Neuronal ceroid lipofuscinosis, 10 disease CTSD 18 g.46013354G>A c.597G>A p.M199I ENSCAFT00000015991 2006 16386934 No 0.798 Disease 0 Disease 0.867 7 Disease 0.293 4 Neutral 0.817 6 Disease -3.475 Disease 0.899 0.820 0.940 Disease 0.716 0.780 0.85 Disease OMIA 002131-9615 dog mixed breed Methemoglobinaemia, CYB5R3-related disease CYB5R3 10 g.22832963G>A c.460G>A p.G154S ENSCAFT00000046278 2017 28963729 No 0.819 Disease 0 Disease 0.918 8 Disease 0.856 7 Disease 0.882 8 Disease -5.868 Disease 0.997 0.410 0.980 Disease 0.988 0.530 0.95 Disease OMIA 002131-9615 dog Pomeranian Methemoglobinaemia, CYB5R3-related disease CYB5R3 10 g.22836951A>C c.814A>C p.I272L ENSCAFT00000046278.3 2018 29356095 No 0.614 Disease 0 Disease 0.584 2 Disease NA NA Unclassified 0.694 4 Disease -1.877 Neutral 0.203 0.920 0.880 Neutral 0.387 0.850 0.79 Neutral OMIA 001130-9615 dog Australian Cattle Dog, Shetland Sheepdog Leucodystrophy disease CYTB M m.14474G>A c.14474G>A p.V98M ENSCAFT00000034849 2006 16026996 Yes 0.403 Neutral 0.01 Disease 0.427 1 Neutral 0.216 6 Neutral 0.668 3 Disease -1.82 Neutral 0.741 0.850 0.920 Disease 0.635 0.800 0.84 Disease OMIA 001466-9615 dog Chesapeake Bay Retriever, Curly-coated retriever, Labrador Retriever Exercise-induced collapse disease DNM1 9 g.55282762G>T c.767G>T p.R256L ENSCAFT00000031957.3 2008 18806795 No 0.73 Disease 0.02 Disease 0.878 8 Disease 0.778 6 Disease 0.79 6 Disease -5.892 Disease 0.989 0.720 0.970 Disease 0.990 0.510 0.95 Disease OMIA 001805-9615 dog Parson Russell Terrier Amelogenesis Imperfecta disease ENAM 13 g.59945218C>T c.716C>T p.P239L ENSCAFT00000004659.3 2019 30877375 No 0.13 Neutral 0 Disease 0.244 5 Neutral 0.664 3 Disease 0.096 8 Neutral -8.286 Disease 1.000 0.000 1.000 Disease 0.991 0.5 0.95 Disease OMIA 000819-9615 dog Shih-Tzu Prekallikrein deficiency disease F11/KLKB1 16 g.44501415T>A c.988T>A p.F330I ENSCAFT00000011815 2011 20736516 Yes 0.768 Disease 0 Disease 0.609 2 Disease 0.163 7 Neutral 0.699 4 Disease -3.188 Disease 0.999 0.140 0.990 Disease 0.950 0.640 0.92 Disease OMIA 000361-9615 dog Beagle, Alaskan Klee Kai 16961583, 17939552 disease F7 22 g.60578895 c.407G>A p.G136E ENSCAFT00000010113 2006 16961583 No 0.355 Neutral 0 Disease 0.918 8 Disease 0.983 10 Disease 0.825 6 Disease -7.371 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 000437-9615 dog Boxer Haemophilia A disease F8 X g.122981181C>G c.1469C>G p.P490R ENSCAFT00000031203.3 2014 25040606 No 0.856 Disease 0 Disease 0.936 9 Disease 0.97 9 Disease 0.792 6 Disease -6.686 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 000437-9615 dog German Shepherd Dog Haemophilia A, type 2 disease F8 X g.122975611G>A c.1700G>A p.C567Y ENSCAFT00000031203.3 2014 25040606 No 0.925 Disease 0 Disease 0.962 9 Disease 0.978 10 Disease 0.947 9 Disease -10.135 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000438-9615 dog Cairn Terrier Haemophilia B disease F9 X g.109521470G>A c.683G>A p.G425E ENSCAFT00000030166.2 1989 2481310 No 0.94 Disease 0 Disease 0.935 9 Disease 0.931 9 Disease 0.893 8 Disease -7.337 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000438-9615 dog Rhodesian Ridgeback Haemophilia B disease F9 X g.109530847G>A c.731G>A p.G244E ENSCAFT00000030166 2011 20303304 No 0.286 Neutral 0.4 Neutral 0.357 3 Neutral 0.11 8 Neutral 0.442 1 Neutral 1.563 Neutral 0.450 0.890 0.900 Neutral 0.305 0.860 0.77 Neutral OMIA 002015-9615 dog Border Collie Dental hypomineralization disease FAM20C 6 g.16452327C>T c.899C>T p.A300V ENSCAFT00000017768 2016 27187611 Yes 0.521 Disease 0.01 Disease 0.451 1 Neutral 0.426 1 Neutral 0.229 5 Neutral -3.768 Disease 1.000 0.000 1.000 Disease 0.992 0.490 0.95 Disease OMIA 001327-9615 dog Irish Terrier, Kromfohrländer Hyperkeratosis, palmoplantar disease FAM83G 5 g.41055619G>C c.309G>C p.R52P ENSCAFT00000008668 2014 24832243 Yes 0.585 Disease 0.02 Disease 0.553 1 Disease NA NA Unclassified 0.713 4 Disease -2.775 Disease 0.891 0.820 0.940 Disease 0.250 0.870 0.75 Neutral OMIA 001335-9615 dog German Shepherd Dog Renal cystadenocarcinoma and nodular dermatofibrosis disease FLCN 5 g.42186445A>G c.764A>G p.H255R ENSCAFT00000029334 2003 14532326 No 0.57 Disease 0 Disease 0.972 9 Disease NA NA Unclassified 0.752 5 Disease -6.71 Disease 1.000 0.000 1.000 Disease 0.994 0.460 0.96 Disease OMIA 000418-9615 dog Maltese Glycogen storage disease Ia disease G6PC1 9 g.20138777G>C c.450G>C p.M121I ENSCAFT00000023266 1997 9259982 Yes 0.453 Neutral 0 Disease 0.983 10 Disease 0.777 6 Disease 0.666 3 Disease -3.598 Disease 0.999 0.140 0.990 Disease 0.962 0.620 0.92 Disease OMIA 000578-9615 dog Cairn Terrier, West Highland White terrier Krabbe disease disease GALC 8 g.59311801A>C c.533A>C p.Y178S ENSCAFT00000036273.3 1996 8661004 No 0.902 Disease 0 Disease 0.987 10 Disease 0.766 5 Disease 0.904 8 Disease -8.182 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 002362-9615 dog Entlebucher mountain dog Fecundity, GDF9 related trait GDF9 11 g.21,147,009G>A p.P176S ENSCAFT00000074255 2020 31802524 No 0.333 Neutral 0.14 Neutral 0.677 4 Disease 0.046 9 Neutral 0.695 4 Disease -1.178 Neutral 0.842 0.830 0.930 Disease 0.354 0.850 0.78 Neutral OMIA 001208-9615 dog Labrador Retriever Alexander disease disease GFAP 9 g.18572769G>A c.719G>A p.R240H ENSCAFT00000022175 2016 26486469 No 0.771 Disease 0 Disease 0.957 9 Disease 0.974 9 Disease 0.755 5 Disease -4.606 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 000402-9615 dog Portugese water dog Gangliosidosis, GM1 disease GLB1 23 g.3754313G>A c.1013G>A p.R338H ENSCAFT00000084237.1 2000 11032334 No 0.879 Disease 0 low Disease 0.974 9 Disease 0.992 10 Disease 0.908 8 Disease -4.457 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000667-9615 dog Brazilian Terrier Mucopolysaccharidosis VII disease GUSB 6 g.740428C>T c.866C>T p.P289L ENSCAFT00000016183 2012 22815736 No 0.682 Disease 0 Disease 0.891 8 Disease 0.636 3 Disease 0.806 6 Disease -8.448 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000667-9615 dog German Shepherd Dog Mucopolysaccharidosis VII disease GUSB 6 g.741429G>A c.497G>A p.R166H ENSCAFT00000016183 1998 9521879 No 0.401 Neutral 0.05 Disease 0.876 9 Disease 0.861 7 Disease 0.453 1 Neutral -3.976 Disease 1.000 0.000 1.000 Disease 0.979 0.570 0.94 Disease OMIA 000703-9615 dog Dachshund Narcolepsy disease HCRTR2 12 g.22517939G>A c.160G>A p.E54K ENSCAFT00000003647 2001 11282968 Yes 0.275 Neutral 0.01 Disease 0.627 3 Disease 0.425 1 Neutral 0.218 6 Neutral -2.23 Neutral 1.000 0.000 1.000 Disease 0.973 0.600 0.93 Disease OMIA 001461-9615 dog Japanese Chin dog Gangliosidosis, GM2, type I (B variant) disease HEXA 30 g.35841247G>A c.967G>A p.E323K ENSCAFT00000077359.1 2013 23266199 No 0.918 Disease 0 Disease 0.986 10 Disease 0.979 10 Disease 0.959 9 Disease -3.901 Disease 1.000 0.000 1.000 Disease 0.996 0.360 0.97 Disease OMIA 002320/001805-9615 dog Lapponian Herder Progressive retinal atrophy disease IFT122 20 g.5648046C>T c.3176G>A p.R1059H ENSCAFT00000007816 2021 33606121 No 0.605 Disease 0 Disease 0.762 5 Disease 0.334 3 Neutral 0.732 5 Disease -4.054 Disease 0.961 0.78 0.95 Disease 0.836 0.73 0.88 Disease OMIA 001000-9615 dog Otterhound Thrombasthenia disease ITGA2B 9 g.19054488G>C c.1339G>C p.D447H ENSCAFT00000084648.1 2001 11703027 No 0.836 Disease 0 Disease 0.865 7 Disease 0.563 1 Disease 0.8 6 Disease -3.018 Disease 0.999 0.140 0.990 Disease 0.956 0.630 0.92 Disease OMIA 000595-9615 dog Irish Setter, mixed breed Leukocyte adhesion deficiency, type I disease ITGB2 31 g.38537012G>C c.107G>C p.C36S ENSCAFT00000017565 1999 10512685, 23417082 No 0.841 Disease 0 Disease 0.956 9 Disease NA NA Unclassified 0.921 8 Disease -9.489 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 002089-9615 dog Parson Russell Terrier, Smooth-Haired Fox Terrier, Jack Russell Terrier Ataxia, cerebellar, KCNJ10-related disease KCNJ10 38 g.22140300C>G c.732C>G p.I244M ENSCAFT00000047126.2 2014 24708069 No 0.636 Disease 0 Disease 0.981 10 Disease 0.679 4 Disease 0.633 3 Disease -2.278 Neutral 0.991 0.710 0.970 Disease 0.933 0.670 0.91 Disease OMIA 002089-9615 dog Malinois, Belgian Shepherd Dogs Ataxia, spinocerebellar disease KCNJ10 38 g.22140659T>C c.1091T>C p.L364P ENSCAFT00000047126.2 2017 27966545, 28007838 No 0.527 Disease 0.2 Neutral 0.988 10 Disease 0.674 3 Disease 0.784 6 Disease -0.209 Neutral 0.993 0.700 0.970 Disease 0.827 0.740 0.88 Disease Australian Stumpy Tail Cattle Dogs deafness disease KLF7 37 g.15562684G>A c.517G>A L173F ENSCAFT00000021390.6 2021 33805165 No 0.186 Neutral 0.15 Neutral 0.751 5 Disease 0.366 3 Neutral 0.476 0 Neutral -1.218 Neutral 0.979 0.76 0.96 Disease 0.801 0.75 0.87 Disease OMIA 000245-9615 dog Portugese water dog Curly coat trait KRT71 27 g.2539211C>T c.451C>T p.R151W ENSCAFT00000011593 2009 19713490 No 0.845 Disease 0.04 Disease 0.901 8 Disease 0.888 8 Disease 0.886 8 Disease -7.033 Disease 1.000 0.000 1.000 Disease 0.991 0.500 0.95 Disease OMIA 001677-9615 Australian Cattle Dog junctional epidermolysis bullosa disease LAMA3 7 g.64427161T>A c.3764T>A D1255V ENSCAFT00000080468.2 2021 34250689 No 0.796 Disease 0 Disease 0.905 8 Disease 0.734 5 Disease 0.858 7 Disease -7.034 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 002269-9615 dog Epidermolysis bullosa, junctionalis LAMB3 related disease LAMB3 7 g.8286613A>G c.1174T>C p.C392R ENSCAFT00000018923.4 2020 32906717 No 0.949 Disease 0.01 Disease 0.919 8 Disease NA NA Unclassified 0.948 9 Disease -9.606 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 002336-9615 dog Rottweiler nonsyndromic hearing loss, deafness, LOXHD1-related disease LOXHD1 7 g.44806821G>C c.5741G>C p.G1914A ENSCAFT00000049867.2 2021 33983508 No 0.842 Disease 0 Disease 0.626 3 Disease NA NA Unclassified 0.866 7 Disease -4.883 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 000626-9615 German Shepherd Beta mannosidosis disease MANBA 32 g.24,147,500T>A c.560T>A p.I187N ENSCAFT00000017140.4 2019 30983534 Yes 0.91 Disease 0 Disease 0.383 2 Neutral NA NA Unclassified 0.679 4 Disease -6.064 Disease 0.999 0.140 0.990 Disease 0.971 0.600 0.93 Disease OMIA 001495-9615 dog Afghan Hound, Saluki Grizzle trait MC1R 5 g.63695017G>T c.233G>T p.G78V NC_006587.3 2010 20525767 No 0.794 Disease 0 Disease 0.487 0 Neutral 0.143 7 Neutral 0.475 0 Neutral 1.579 Neutral 0.069 0.940 0.840 Neutral 0.100 0.910 0.68 Neutral OMIA 001590-9615 dog Leonberger, Malinois Black melanistic mask trait MC1R 5 g.63694460A>G c.790A>G M264V NC_049746.1 2003 12692165 No 0.361 Neutral 0.47 Neutral 0.264 5 Neutral 0.186 6 Neutral 0.256 5 Neutral 0.525 Neutral 0.000 1.000 0.000 Neutral 0.001 0.990 0.09 Neutral OMIA 002197-9615 dog Pug, West Highland White Terrier, Bichons, White Shepherd, Alaskan Malamute Coat colour, phaeomelanin dilution, MFSD12-related trait MFSD12 20 g.55,850,145C>T c.151C>T p.R51C XM_005633234.2, XP_005633291.2 2019 31117290 No 0.509 Disease 0.18 Neutral 0.734 5 Disease NA NA Unclassified 0.367 3 Neutral -0.645 Neutral 0.968 0.770 0.950 Disease 0.559 0.810 0.82 Disease OMIA 001040-9615 dog Rhodesian Ridgeback Dog ventricular arrhythmias and sudden cardiac death disease MICOS13 20 g.54343438G>A c.325G>A G109S ENSCAFT00000029838.5 2019 30795627 No 0.587 Disease 0.01 Disease 0.465 1 Neutral NA NA Unclassified 0.495 0 Neutral -3.522 Disease 1.000 0.000 1.000 Disease 0.999 0.09 0.99 Disease OMIA 000031-9615 dog Chow Chow, Sloughi, Thai Ridgeback Coat colour dilution disease MLPH 25 g.48150787G>C c.705G>C p.Q235H ENSCAFT00000019444 2018 29349785 Yes 0.102 Neutral 0 Disease 0.641 3 Disease 0.641 3 Disease 0.398 2 Neutral -0.854 Neutral 0.827 0.840 0.930 Disease 0.398 0.840 0.79 Disease OMIA 001819-9615 dog Dachshund Xanthinuria2c disease MOCOS L46P ENSCAFT00000028243 Yes 0.96 Disease 0.01 Disease 0.867 7 Disease NA NA Unclassified 0.907 8 Disease -4.465 Disease 0.985 0.740 0.960 Disease 0.744 0.770 0.86 Disease OMIA 001819-9615 dog Toy Manchester Terrier Xanthinuria2a disease MOCOS 232G>T G78C ENSCAFT00000028243 Yes 0.77 Disease 0.01 Disease 0.345 3 Neutral NA NA Unclassified 0.638 3 Disease -3.988 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 001561-9615 dog Shar-Pei Periodic Fever Syndrome disease MTBP 13 g.19383758G>A c.2623G>A p.E875K ENSCAFT00000001477 2017 28472921 Yes 0.454 Neutral 0.01 Disease 0.148 7 Neutral NA NA Unclassified 0.378 2 Neutral -2.254 Neutral 0.979 0.760 0.960 Disease 0.746 0.770 0.86 Disease OMIA 001508-9615 dog Rottweiler Myotubular myopathy 1 disease MTM1 X g.118901282A>C c.1303A>C p.Q435P ENSCAFT00000030374.3 2015 25664165 No 0.904 Disease 0 Disease 0.982 10 Disease 0.786 6 Disease 0.886 8 Disease -5.849 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 001508-9615 dog Labrador Retriever Myotubular myopathy 1 disease MTM1 X g.118885117C>A c.618C>A p.N206K ENSCAFT00000030374.4 2010 20682747 No 0.618 Disease 0.04 Disease 0.733 5 Disease NA NA Unclassified 0.499 0 Neutral -0.982 Neutral 0.592 0.870 0.910 Disease 0.368 0.850 0.78 Neutral OMIA 001608-9615 dog Pug May-Hegglin anomaly disease MYH9 10 g.28120346G>A c.5584G>A p.E1862K ENSCAFT00000076480.1 2011 21554370 No 0.623 Disease 0 Disease 0.93 9 Disease NA NA Unclassified 0.753 5 Disease -3.166 Disease 0.997 0.410 0.980 Disease 0.850 0.730 0.88 Disease dog Doberman Pinscher bilateral deafness and vestibular dysfunction disease MYO7A 21 g.21563111G>A c.3719G>A R1240Q ENSCAFT00000008307.5 2019 31097876 No 0.868 Disease 0 Disease 0.978 10 Disease 0.778 6 Disease 0.709 4 Disease -3.722 Disease 1.000 0.000 1.000 Disease 0.998 0.180 0.98 Disease OMIA 001788-9615 dog Leonberger Leukoencephalomyelopathy disease NAPEPLD 18 g.16987520G>C c.538G>C p.A180P ENSCAFT00000006810.4 2018 29643404 Yes 0.8 Disease 0.03 Disease 0.606 2 Disease NA NA Unclassified 0.828 7 Disease -3.98 Disease 0.999 0.140 0.990 Disease 0.965 0.620 0.93 Disease dog Schnauzer chronic respiratory infections disease NAT10 18 g.33675758A>C H364Q ENSCAFT00000011286.5 33755251 No 0.459 Neutral 0 Disease 0.695 4 Disease 0.344 3 Neutral 0.732 5 Disease -7.808 Disease 0.976 0.76 0.96 Disease 0.76 0.77 0.86 Disease OMIA 002120-9615 dog Alaskan Malamute Polyneuropathy disease NDRG1 13 g.29714606G>T c.293G>T p.G98V ENSCAFT00000001747 2013 23393557 No 0.89 Disease 0 Disease 0.971 9 Disease 0.922 8 Disease 0.835 7 Disease -7.609 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 002117-9615 dog Chihuahua verrucous epidermal keratinocytic nevi disease NSDHL X g.120752468G>A c.700G>A p.G234R ENSCAFT00000030435.4 2019 31571289 No 0.884 Disease 0.06 Neutral 0.925 9 Disease 0.895 8 Disease 0.81 6 Disease -3.814 Disease 1.000 0.000 1.000 Disease 0.974 0.590 0.93 Disease OMIA 002031-9615 dog Lundehund Lundehund syndrome disease P3H2 34 g.22046092G>C p.E617Q ENSCAFT00000022188 2016 27485430 No 0.357 Neutral 0.39 Neutral 0.16 7 Neutral 0.312 4 Neutral 0.17 7 Neutral -1.509 Neutral 0.956 0.790 0.950 Disease 0.799 0.750 0.87 Disease dog Shetland Sheepdog Paroxysmal Exercise-Induced Dyskinesia disease PCK2 8 g.4107413G>A c.1658G>A R387Q ENSCAFT00000018871.5 2020 32660061 No 0.9 Disease 0 Disease 0.976 10 Disease 0.695 4 Disease 0.928 9 Disease -2.523 Disease 1.000 0.000 1.000 Disease 0.999 0.09 0.99 Disease OMIA 000421-9615 dog Wachtelhund Glycogen storage disease VII disease PFKM 27 g.6631627C>T c.763C>T p.R255W ENSCAFT00000014356.4 2012 22446493, 21311071 No 0.914 Disease 0 Disease 0.956 9 Disease 0.938 9 Disease 0.794 6 Disease -7.83 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 002084-9615 dog Soft Coated Wheaten Terrier Dyskinesia, paroxysmal, PIGN disease PIGN 1 g.14705240C>T c.398C>T p.T133I ENSCAFT00000046346 2016 27891564 Yes 0.508 Disease 0.02 Disease 0.699 4 Disease 0.702 4 Disease 0.677 4 Disease -5.042 Disease 0.985 0.740 0.960 Disease 0.865 0.720 0.89 Disease OMIA 000807-9615 dog Bull Terrier Polycystic kidney disease disease PKD1 6 g.38856816G>A c.9559G>A p.E3187K ENSCAFT00000030883 2011 21818326 No 0.151 Neutral 0 Disease 0.884 8 Disease 0.149 7 Neutral 0.212 6 Neutral -1.586 Neutral 0.998 0.270 0.990 Disease 0.977 0.580 0.94 Disease OMIA 000844-9615 dog Pug Pyruvate kinase deficiency of erythrocyte disease PKLR 7 g.42268681T>C c.1031T>C p.V344A ENSCAFT00000059523.1 2012 22805166 No 0.827 Disease 0.04 Disease 0.937 9 Disease 0.713 4 Disease 0.589 2 Disease -3.664 Disease 0.998 0.270 0.990 Disease 0.991 0.500 0.95 Disease OMIA 000844-9615 dog Beagle Pyruvate kinase deficiency of erythrocyte disease PKLR 7 g.42268927G>A c.1177G>A p.G393S ENSCAFT00000059523.1 2012 22805166 No 0.931 Disease 0 Disease 0.962 9 Disease 0.833 7 Disease 0.857 7 Disease -5.463 Disease 1.000 0.000 1.000 Disease 0.998 0.180 0.98 Disease OMIA 002105-9615 dog Papillon Neuroaxonal dystrophy, PLA2G6-related disease PLA2G6 10 g.26544820G>A c.1579G>A p.A527T ENSCAFT00000002213 2017 28107443 No 0.605 Disease 0 Disease 0.823 6 Disease 0.385 2 Neutral 0.467 1 Neutral -2.403 Neutral 0.201 0.920 0.880 Neutral 0.122 0.900 0.70 Neutral OMIA 000770-9615 dog Springer Spaniel Tremor, X-linked disease PLP1 X g.77200833A>C c.110A>C p.H37P ENSCAFT00000028257 1990 1723945 No 0.868 Disease 0.01 Disease 0.98 10 Disease 0.937 9 Disease 0.867 7 Disease -8.695 Disease 0.999 0.140 0.990 Disease 0.992 0.490 0.95 Disease OMIA 001298-9615 dog American cocker spaniel, Australian Cattle Dog, Australian Shepherd, Australian stumpy tail cattle dog, Chesapeake Bay Retriever, Chinese Crested Dog, English Cocker Spaniel, Entlebucher mountain dog, Finnish Lapphund, Golden Retriever, Karelian bear dog, Kuvasz, Labrador Retriever, Lapponian Herder , Miniature Poodle, Norwegian Elkhound, Nova Scotia Duck Tolling retriever, Portugese water dog, Spanish water dog, Swedish Lapphund, Toy Poodle, Yorkshire Terrier Progressive rod-cone degeneration disease PRCD 9 g.4188663G>A c.5G>A p.C2Y ENSCAFT00000049113 2006 16938425 No 0.549 Disease 0 low Disease 0.41 2 Neutral NA NA Unclassified 0.307 4 Neutral -6.967 Disease 0.974 0.760 0.960 Disease 0.922 0.680 0.91 Disease OMIA 001454-9615 dog Great Dane Harlequin trait PSMB7 9 g.58530295T>G c.146T>G p.V49G ENSCAFT00000080009.1 2011 21256207 No 0.922 Disease 0 Disease 0.827 7 Disease 0.82 6 Disease 0.844 7 Disease -5.835 Disease 0.647 0.870 0.910 Disease 0.487 0.830 0.81 Disease OMIA 001913-9615 dog Gordon Setter, Old English Sheepdog Ataxia, cerebellar, in Old English Sheepdogs and Gordon Setters disease RAB24 4 g.36055678A>C c.113A>C p.Q38P ENSCAFT00000026078 2014 24516392 Yes 0.846 Disease 0.03 Disease 0.898 8 Disease 0.504 0 Disease 0.82 6 Disease -3.811 Disease 0.004 0.970 0.590 Neutral 0.005 0.970 0.44 Neutral OMIA 002032-9615 dog Mixed breed dog sensory and automatic neuropathy disease RETREG1 4 g.86916562C>T c.656C>T P219L NM_001314111.1 2021 34387380 No 0.877 Disease 0 Disease 0.784 6 Disease NA NA Unclassified 0.765 5 Disease -9.842 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 001346-9615 dog English Mastiff Autosomal dominant PRA disease RHO 20 g.5637394C>G c.11C>G p.T4R ENSCAFT00000007461 2002 11972042 No 0.869 Disease 0 Disease 0.88 8 Disease 0.712 4 Disease 0.628 3 Disease -1.165 Neutral 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 002194-9615 dog Alpine Dachsbracke Ataxia, spinocerebellar, SCN8A-related disease SCN8A 27 g.3,179,029C>A c.4898G>T p.G1633V ENSCAFT00000068030.1 2019 31083464 No 0.93 Disease 0 Disease 0.944 9 Disease 0.81 6 Disease 0.764 5 Disease -7.256 Disease 1.000 0.000 1.000 Disease 0.990 0.510 1.00 Disease OMIA 001692-9615 dog Finnish Hound Ataxia, cerebellar, progressive early-onset disease SEL1L 8 g.53778458T>C c.1972T>C p.S658P ENSCAFT00000027441 2012 22719266 No 0.802 Disease 0.3 Neutral 0.952 9 Disease 0.656 3 Disease 0.888 8 Disease -4.008 Disease 0.911 0.810 0.940 Disease 0.610 0.800 0.83 Disease OMIA 001483-9615 dog Dachshund Osteogenesis imperfecta_Dachshund disease SERPINH1 21 g.23033735T>C c.977T>C p.L326P ENSCAFT00000008665 2009 19629171 No 0.863 Disease 0 Disease 0.94 9 Disease 0.749 5 Disease 0.885 8 Disease -4.894 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 001033-9615 dog Dalmatian Urolithiasis disease SLC2A9 3 g.69456869G>T c.563G>T p.C188F ENSCAFT00000049939 2008 18989453 No 0.756 Disease 0 Disease 0.954 9 Disease 0.74 5 Disease 0.857 7 Disease -5.363 Disease 0.999 0.140 0.990 Disease 0.990 0.510 0.95 Disease OMIA 001821-9615 dog Lhasa Apso, mixed breed, Pekingese, Pomeranian Coat colour, albinism, oculocutaneous type IV disease SLC45A2 4 g.73867311G>A c.1478G>A p.G493D ENSCAFT00000029893 2015 25790827 No 0.82 Disease 0 Disease 0.946 9 Disease 0.629 3 Disease 0.839 7 Disease -2.531 Disease 0.998 0.270 0.990 Disease 0.965 0.620 0.93 Disease OMIA 001880-9615 dog Miniature Pinscher Cystinuria, type II - B disease SLC7A9 1 g.119211938G>A c.967G>A p.G322R ENSCAFT00000012014 2013 24001348 No 0.64 Disease 0.01 Disease 0.927 9 Disease 0.609 2 Disease 0.857 7 Disease -7.833 Disease 1.000 0.000 1.000 Disease 0.996 0.360 0.97 Disease OMIA 000263-9615 dog Boxer, Chesapeake Bay Retriever, German Shepherd Dog, Pembroke Welsh Corgi, Rhodesian Ridgeback Degenerative myelopathy disease SOD1 31 g.26540342G>A c.100G>A p.E34K ENSCAFT00000014065 2009 19188595, 22542607 Yes 0.399 Neutral 0.18 Neutral 0.968 9 Disease 0.187 6 Neutral 0.421 2 Neutral -1.191 Neutral 0.006 0.970 0.750 Neutral 0.014 0.950 0.53 Neutral OMIA 001318-9615 dog mixed breed Elliptocytosis disease SPTB 8 g.39170437C>T c.6119C>T p.T2040M ENSCAFT00000025613.4 2009 19228356 No 0.192 Neutral 0 Disease 0.841 7 Disease 0.859 7 Disease 0.487 0 Neutral -4.085 Disease 0.991 0.710 0.970 Disease 0.863 0.720 0.89 Disease OMIA 001373-9615 dog Labrador Retriever Nasal parakeratosis disease SUV39H2 2 g.21731842A>C c.972T>G p.N324K ENSCAFT00000007559 2013 24098150 Yes 0.863 Disease 0 Disease 0.885 8 Disease 0.505 0 Disease 0.839 7 Disease -5.497 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000975-9615 dog Pembroke Welsh Corgi Bob tail disease TBXT 1 g.54192143C>G c.189C>G p.I63M ENSCAFT00000080786 2001 11252170 No 0.899 Disease 0.03 Disease 0.982 10 Disease 0.665 3 Disease 0.882 8 Disease -2.94 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 001975-9615 dog Spanish water dog Neuroaxonal dystrophy, juvenile disease TECPR2 8 g.70433320C>T c.4009C>T p.R1337W ENSCAFT00000028689 2015 26555167 No 0.903 Disease 0 Disease 0.524 0 Disease NA NA Unclassified 0.811 6 Disease -5.918 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 000536-9615 dog Tenterfield Terrier Hypothyroidism disease TPO 17 g.799099C>T c.1774C>T p.R592W ENSCAFT00000005172.3 2012 23113744 No 0.941 Disease 0 Disease 0.93 9 Disease 0.998 10 Disease 0.934 9 Disease -7.333 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 002215-9615 dog Standard Schnauzer Leukodystrophy, TSEN54-related disease TSEN54 9 g.5,015,506C>T c.371G>A p.G124D ENSCAFT00000007733.4 2019 31584937 No 0.855 Disease 0 Disease 0.218 6 Neutral 0.165 7 Neutral 0.766 5 Disease -4.467 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.00 Disease OMIA 002434/001001-9615 dog King Charles Spaniel Thrombocytopaenia disease TUBB1 24 g.43766144G>A c.1174G>A p.D392N ENSCAFT00000047550.1 2008 18466252 Yes 0.574 Disease 0.01 low Disease 0.751 5 Disease 0.353 3 Neutral 0.861 7 Disease -4.695 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 002434/001001-9615 dog Norfolk terrier Thrombocytopaenia disease TUBB1 24 g.43761303G>A c.434G>A p.R145H ENSCAFT00000047550.1 2014 25060661 No 0.414 Neutral 0 low Disease 0.675 4 Disease NA NA Unclassified 0.816 6 Disease -1.779 Neutral 0.854 0.830 0.930 Disease 0.775 0.760 0.86 Disease dog Dachshund Himalayan coat color trait TYR 21 g.10893929G>A c.230G>A R77Q NM_001002941.1 2021 33039541 No 0.718 Disease 0 Disease 0.988 10 Disease 0.932 9 Disease 0.888 8 Disease -3.74 Disease 0.998 0.27 0.99 Disease 0.997 0.27 0.98 Disease OMIA 001249-9615 dog Siberian Husky Brown Coat Color trait TYRP1 11 g.33317814G>A c.125G>A p.C42Y ENSCAFT00000002296 2021 33421162 No 0.914 Disease 0 Disease 0.974 9 Disease 0.983 10 Disease 0.925 9 Disease -9.6 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease OMIA 001249-9615 dog Numerous breeds Brown trait TYRP1 11 g.33317810T>A c.121T>A p.C41S ENSCAFT00000002296 2002 12140685 No 0.897 Disease 0 Disease 0.971 9 Disease 0.793 6 Disease 0.916 8 Disease -8.473 Disease 1.000 0.000 1.000 Disease 1.000 0.000 1.000 Disease dog German Shorthaired Pointer and Vizsla Cutaneous lupus erythematosus disease UNC93B1 18 g.49834825C>A c.1438C>A P527T ENSCAFT00000017817.5 2020 32028618 No 0.298 Neutral 0.05 Neutral 0.52 0 Disease 0.538 1 Disease 0.361 3 Neutral -2.599 Disease 0.999 0.14 0.99 Disease 0.996 0.36 0.97 Disease OMIA 002152-9615 dog Rottweiler Neuroaxonal dystrophy, VPS11-related disease VPS11 5 g.14777774T>C c.2504A>G p.H835R ENSCAFT00000019646.4 2018 29945969 No 0.529 Disease 0 Disease 0.655 3 Disease 0.236 5 Neutral 0.602 2 Disease -7.371 Disease 0.994 0.690 0.970 Disease 0.960 0.630 0.92 Disease OMIA 001339-9615 dog Chinese Crested Dog, German Shorthair Pointer, German Wirehaired Pointer Von Willebrand disease II disease VWF 27 g.38887211T>G c.1657T>G p.W547G ENSCAFT00000024188 2017 28696025 No 0.914 Disease 0 Disease 0.943 9 Disease 0.63 3 Disease 0.91 8 Disease -12.228 Disease 1.000 0.000 1.000 Disease 0.999 0.090 0.99 Disease OMIA 001339-9615 dog German Shorthair Pointer, German Wirehaired Pointer Von Willebrand disease II disease VWF 27 g.38924099A>G c.4937A>G p.N1646S ENSCAFT00000024188 2004 15133170 No 0.125 Neutral 0.42 Neutral 0.227 5 Neutral NA NA Unclassified 0.227 5 Neutral -0.605 Neutral 0.020 0.950 0.800 Neutral 0.002 0.990 0.18 Neutral dog Belgian Shepherd Dogs cardiomyopathy and juvenile mortality disease YARS2 27 g.16157324G>A c.1054G>A p.E352K ENSCAFT00000016678 2020 32183361 No 0.758 Disease 0.08 Neutral 0.787 6 Disease 0.555 1 Disease 0.803 6 Disease -1.837 Neutral 0.782 0.850 0.930 Disease 0.396 0.840 0.79 Neutral OMIA 002195-9615 dog Welsh Springer Spaniel cardiomyopathy, dilated, PLN-related disease PLN 1 g.58588129G>A c.26G>A p.R9H ENSCAFT00000087967.1 2019 30794913 No 0.36 Neutral 0.01 low Disease 0.888 8 Disease 0.573 1 Disease 0.614 2 Disease -4.556 Disease NA NA NA Unclassified NA NA NA Unclassified OMIA 000439-9615 dog Afghan Hound, Border Collie, Cocker Spaniel, Collie, Corgi, Dachshund, German Shepherd Dog, Golden Retriever, Pomeranian, Samoyed Long hair trait FGF5 32 g.4509367G>T c.284G>T p.C95F ENSCAFT00000038532 2006 16879338 No 0.908 Disease 0 Disease 0.935 9 Disease 0.306 4 Neutral 0.945 9 Disease -8.677 Disease NA NA NA Unclassified NA NA NA Unclassified OMIA 000439-9615 dog Akita, Samoyed, Siberian Huskie Long hair trait FGF5 32 g.4528639C>T c.578C>T p.A193V ENSCAFT00000038532 2013 23384345 No 0.763 Disease 0 Disease 0.642 3 Disease 0.404 2 Neutral 0.464 1 Neutral -3.406 Disease NA NA NA Unclassified NA NA NA Unclassified OMIA 002099-9615 dog German Shepherd Dog Ichthyosis, ASPRV1-related disease ASPRV1 10 g.68587027T>C c.908T>C p.L303P ENSCAFT00000005320.3 2017 28249031 No 0.388 Neutral 0 Disease 0.367 3 Neutral NA NA Unclassified 0.501 0 Disease -1.6 Neutral NA NA NA Unclassified NA NA NA Unclassified Excluded variants OMIA 000201-9615 dog Fawn or sable trait ASIP 24 c.244G>T p.A82S ENSCAFT00000038625.2 2005 15965787 No 0.036 Neutral 1 Neutral 0.025 10 Neutral 0.196 6 Neutral 0.013 10 Neutral 0.077 Neutral 0.000 1.000 0.000 Neutral 0.000 1.000 0.000 Neutral OMIA 000201-9615 dog Fawn or sable trait ASIP 24 c.248A>G p.R83H ENSCAFT00000038625.2 2005 15965787 No 0.049 Neutral 0.9 Neutral 0.037 9 Neutral 0.217 6 Neutral 0.017 10 Neutral 0.358 Neutral 0.000 1.000 0.000 Neutral 0.000 1.000 0.000 Neutral not in omia Doberman Pinscher dilated cardiomyopathy disease TTN 36 g.22321955C>T G8620R XM_038463404.1, XP_038319332.1 2019 30715562 No NA NA NA NA NA 0.811 6 Disease NA NA Unclassified 0.904 8 Disease -4.929 Disease NA NA NA NA NA NA NA NA OMIA 000621-9615 dog Collie, Doberman, German Shepherd Dog, Labrador Retriever Malignant hyperthermia disease RYR1 1 g.114562165T>C c.1640T>C p.V548A ENSCAFT00000009509.4 2001 11575546 Yes 0.22 Neutral 0.96 9 Disease 0.276 4 Neutral 0.43 1 Neutral -3.278 Disease 0.981 0.750 0.960 Disease 0.867 0.720 0.89 Disease https://omia.org/omia002362/https://omia.org/4200