Chromosomes are truly huge swathes of DNA that have been compressed 1) in real life but also 2) on our chromosome depictions. While we can't tell you exactly what each chromosome does, per se, because one chromosome can have tens of thousands of genes, we can share the chromosome number corresponding to each of our health conditions and traits in their descriptions.
Health Conditions
Chromosome | Gene | Health Condition Name |
1 | RYR1 | Malignant Hyperthermia |
1 | NPHS1 | Protein Losing Nephropathy, PLN |
1 | SLC7A9 (Exon 9) | Cystinuria Type II-B |
1 | SERAC1 (Exon 15) | Progressive Neuronal Abiotrophy, Canine Multiple System Degeneration, CMSD (SERAC1 Exon 15) |
1 | SERAC1 (Exon 4) | Progressive Neuronal Abiotrophy, Canine Multiple System Degeneration, CMSD (SERAC1 Exon 4) |
1 | PLG | Ligneous Membranitis, LM |
1 | VLDLR | Cerebellar Hypoplasia |
2 | MFN2 | Fetal-Onset Neonatal Neuroaxonal Dystrophy |
2 | PTPLA | Centronuclear Myopathy |
2 | CUBN (Exon 8) | Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption |
2 | CUBN (Exon 53) | Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption |
2 | HEXB (Exon 3) | GM2 Gangliosidosis (HEXB, Poodle Variant) |
2 | CNGB1 | Progressive Retinal Atrophy |
2 | FUCA1 | Canine Fucosidosis |
2 | ATP13A2 | Late-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2, Australian Cattle Dog Variant) |
2 | ATP13A2 | Adult-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2, Tibetan Terrier Variant) |
3 | ADAMTS17 | Primary Lens Luxation |
3 | ADAMTS17 (Exon 11) | Glaucoma (ADAMTS17 Exon 11) |
3 | ADAMTS17 (Exon 2) | Glaucoma (ADAMTS17 Exon 2) |
3 | SLC2A9 (Exon 5) | Hyperuricosuria and Hyperuricemia or Urolithiasis, HUU |
3 | LGI2 (Exon 8) | Benign Familial Juvenile Epilepsy, Remitting Focal Epilepsy |
3 | IDUA (Intron 1) | Mucopolysaccharidosis Type I, MPS I |
3 | PDE6B Exon 21 | Progressive Retinal Atrophy, rcd1 (PDE6B Exon 21 Irish Setter Variant) |
3 | PDE6B | Progressive Retinal Atrophy, crd1 |
4 | KRT16 (Exon 6) | Focal Non-Epidermolytic Palmoplantar Keratoderma, Pachyonychia Congenita |
4 | NIPAL4 (Exon 6) | Ichthyosis |
4 | PDE6A | Progressive Retinal Atrophy, rcd3 |
4 | GDNF-AS | Hereditary Sensory Autonomic Neuropathy, Acral Mutilation Syndrome, AMS |
5 | SLC37A2 (Exon 15) | Craniomandibular Osteopathy, CMO |
5 | VPS11 | Neuroaxonal Dystrophy, NAD (Rottweiler Variant) |
5 | ATP1B2 | Spongy Degeneration with Cerebellar Ataxia 2, SDCA2 |
5 | FAM83G | Hereditary Footpad Hyperkeratosis |
5 | FLCN | Renal Cystadenocarcinoma and Nodular Dermatofibrosis, RCND (FLCN Exon 7) |
5 | APRT (Exon 3) | 2,8-Dihydroxyadenine Urolithiasis, 2,8-DHA Urolithiasis |
5 | CHST6 | Macular Corneal Dystrophy, MCD |
5 | HSF4 (Exon 9) | Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9 Boston Terrier Variant) |
5 | HSF4 (Exon 9) | Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9 Shepherd Variant) |
6 | PKD1 (Exon 29) | Polycystic Kidney Disease, PKD |
6 | AGL (GDE) | Glycogen Storage Disease Type IIIA, GSD IIIA |
6 | GUSB (Exon 5) | Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 5) |
6 | GUSB (Exon 3) | Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 3) |
6 | RPE65 | Congenital Stationary Night Blindness |
7 | PKP1 (Intron 1 splice site) | Ectodermal Dysplasia, Skin Fragility Syndrome |
7 | BCAN (Exons 1-4) | Episodic Falling Syndrome |
7 | PKLR Exon 5 | Pyruvate Kinase Deficiency (PKLR Exon 5) |
7 | PKLR Exon 7 SNP Variant 1 | Pyruvate Kinase Deficiency (PKLR Exon 7 Labrador Variant) |
7 | PKLR Exon 7 SNP Variant 2 | Pyruvate Kinase Deficiency (PKLR Exon 7 Pug Variant) |
7 | PKLR Exon 7 SNP Variant 3 | Pyruvate Kinase Deficiency (PKLR Exon 7 Beagle Variant) |
7 | PKLR Exon 10 | Pyruvate Kinase Deficiency (PKLR Exon 10) |
8 | L2HGDH | L-2-Hydroxyglutaricaciduria, L2HGA |
8 | SPTB Exon 30 | Canine Elliptocytosis |
8 | SEL1L | Cerebellar Ataxia, Progressive Early-Onset Cerebellar Ataxia |
8 | GALC (Exon 5) | Globoid Cell Leukodystrophy, Krabbe disease |
8 | TTC8 Exon 8 | Golden Retriever Progressive Retinal Atrophy 2, GR-PRA2 |
8 | TECPR2 | Neuroaxonal Dystrophy, NAD (Spanish Water Dog Variant) |
9 | ARSG (Exon 2) | Neuronal Ceroid Lipofuscinosis 1, Cerebellar Ataxia, NCL4A |
9 | SGSH (Exon 6 Variant 2) | Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A, MPS IIIA (SGSH Exon 6 Variant 2) |
9 | SGSH Exon 6 Variant 1) | Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A, MPS IIIA (SGSH Exon 6 Variant 1) |
9 | GAA (Exon 15) | Glycogen Storage Disease Type II, Pompe's Disease, GSD II |
9 | GFAP (Exon 4) | Alexander Disease |
9 | ITGA2B Exon 12 | Glanzmann's Thrombasthenia Type I |
9 | ITGA2B Exon 13 | Glanzmann's Thrombasthenia Type I |
9 | G6PC | Glycogen Storage Disease Type IA, Von Gierke Disease, GSD IA |
9 | KRT10 (Intron 5) | Ichthyosis, Epidermolytic Hyperkeratosis |
9 | COL1A1 (Exon 18) | Osteogenesis Imperfecta, Brittle Bone Disease |
9 | PRCD Exon 1 | Progressive Retinal Atrophy, prcd |
9 | ADAMTSL2 (Exon 7) | Musladin-Lueke Syndrome |
9 | SLC27A4 | Ichthyosis |
9 | DNM1 | Exercise-Induced Collapse |
10 | MYH9 | May-Hegglin Anomaly |
10 |
CNGA3 (Exon 7 Deletion) |
Achromatopsia, CNGA3 Exon 7 Labrador Retriever Variant |
10 |
CNGA3 (Exon 7 SNP) |
Achromatopsia, CNGA3 Exon 7 German Shepherd Variant |
10 | SLC3A1 (Exon 2) | Cystinuria Type I-A |
10 | SLC3A1 (Exon 6) | Cystinuria Type II-A |
12 | FGF4 retrogene - CFA12 | Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD |
12 | HCRTR2 | Narcolepsy, HCRTR2 Intron 6 |
12 | COL11A2 | Skeletal Dysplasia 2, SD2 |
12 | PNPLA1 (Exon 8) | Ichthyosis |
13 | VPS13B Exon 19 | Trapped Neutrophil Syndrome |
13 | MTBP | Shar-Pei Autoinflammatory Disease, SPAID, Shar-Pei Fever |
13 | NDRG1 (Exon 15) | Polyneuropathy, NDRG1 Greyhound Variant (NDRG1 Exon 15) |
13 | NDRG1 (Exon 4) | Polyneuropathy, NDRG1 Malamute Variant (NDRG1 Exon 4) |
13 | FAM83H | Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis, Dry Eye Curly Coat Syndrome, CKCSID (FAM83H Exon 5) |
13 | GPT | Alanine Aminotransferase Activity |
13 | CNGA1 Exon 9 | Progressive Retinal Atrophy, CNGA |
13 | ENAM | Autosomal Recessive Amelogenesis Imperfecta, Familial Enamel Hypoplasia (Italian Greyhound Variant) |
14 | ABCB1 | MDR1 Drug Sensitivity (MDR1) |
14 | COL1A2 | Osteogenesis Imperfecta, Brittle Bone Disease |
14 | PDK4 | Dilated Cardiomyopathy, DCM1 (PDK4) |
14 | SLC13A1 | Osteochondrodysplasia, Skeletal Dwarfism |
15 | RPGRIP1 (Exon 2) | Progressive Retinal Atrophy - crd4/cord1 |
15 | PPT1 (Exon 8) | Neuronal Ceroid Lipofuscinosis 1, NCL 1 |
15 | FNIP2 | Hypomyelination and Tremors |
16 | KLKB1 Exon 8 | Prekallikrein Deficiency |
16 | ARHGEF10 Exon 17 | Juvenile-Onset Polyneuropathy, Leonberger Polyneuropathy 1, LPN1 (LPN1, ARHGEF10) |
16 | CLCN1 (Exon 23) | Myotonia Congenita |
16 | CLCN1 (Exon 7) | Myotonia Congenita |
17 | ITGA10 | Chondrodystrophy, Norwegian Elkhound and Karelian Bear Dog Variant |
17 | TPO | Congenital Hypothyroidism (TPO, Tenterfield Terrier Variant) |
18 | RAG1 | Severe Combined Immunodeficiency |
18 | CAT | Hypocatalasia, Acatalasemia |
18 | CTSD (Exon 5) | Neuronal Ceroid Lipofuscinosis 10, NCL 10 |
18 | KCNQ1 | Long QT Syndrome |
18 | SPTBN2 | Cerebellar Abiotrophy, Neonatal Cerebellar Cortical Degeneration, NCCD |
18 | CAPN1 | Spinocerebellar Ataxia, Late-Onset Ataxia, LoSCA |
18 | RASGRP1 Exon 5 | Thrombopathia (RASGRP1 Exon 5, American Eskimo Dog Variant) |
18 | RASGRP1 Exon 5 | Thrombopathia (RASGRP1 Exon 5, Basset Hound Variant) |
18 | RASGRP1 Exon 8 | Thrombopathia (RASGRP1 Exon 8) |
18 | FERMT3 | Canine Leukocyte Adhesion Deficiency Type III, CLAD3 |
18 | BEST1/VMD2 (Exon 10 SNP) | Canine Multifocal Retinopathy (BEST1 Exon 10 SNP) |
18 | BEST1 (Exon 10 Deletion) | Canine Multifocal Retinopathy (BEST1 Exon 10 Deletion) |
18 | BEST1/VMD2 (Exon 5) | Canine Multifocal Retinopathy (BEST1 Exon 5) |
18 | BEST1/VMD2 (Exon 2) | Canine Multifocal Retinopathy (BEST1 Exon 2) |
19 | MFSD8 | Neuronal Ceroid Lipofuscinosis |
19 | BIN1 | Inherited Myopathy of Great Danes |
20 | COL7A1 (Exon 68) | Dystrophic Epidermolysis Bullosa |
20 | ATG4D (Exon 10) | Lagotto Storage Disease |
20 | ADAMTS10 (Exon 17) | Glaucoma (ADAMTS10 Exon 17) |
20 | ADAMTS10 (Exon 9) | Glaucoma (ADAMTS10 Exon 9) |
20 | C3 | Complement 3 Deficiency, C3 Deficiency |
20 | RHO (Exon 1) | Autosomal Dominant Progressive Retinal Atrophy |
21 | MYO7A | Deafness and Vestibular Syndrome of Dobermans, DVDob, DINGS |
21 | SERPINH1 (Exon 5) | Osteogenesis Imperfecta, Brittle Bone Disease |
21 | TPP1 (Exon 4) | Neuronal Ceroid Lipofuscinosis 2, NCL 2 |
22 | CLN5 (Exon 4) | Neuronal Ceroid Lipofuscinosis 1, NCL 5 (CLN5 Border Collie Variant) |
22 | CLN5 (Exon 4 Deletion) | Neuronal Ceroid Lipofuscinosis (CLN5 Golden Retriever Variant) |
22 | F7 Exon 5 | Factor VII DeficiencyFactor VII Deficiency |
23 | COLQ (Exon 14) | Congenital Myasthenic Syndrome |
23 | GLB1 (Exon 2) | GM1 Gangliosidosis |
23 | GLB1 (Exon 15) | GM1 Gangliosidosis (GLB1 Exon 15 Shiba Inu Variant) |
23 | GLB1 (Exon 15) | GM1 Gangliosidosis (GLB1 Exon 15 Alaskan Husky Variant) |
23 | P2Y12 | P2Y12 Receptor Platelet Disorder |
24 | TUBB1 Exon 1 SNP 745 | Congenital Macrothrombocytopenia |
24 | COL9A3 (Exon 1) | Oculoskeletal Dysplasia 1, Dwarfism-Retinal Dysplasia, OSD1, COL9A3, Labrador Retriever) |
25 | COL4A4 (Exon 3) | Autosomal Recessive Hereditary Nephropathy, Familial Nephropathy, ARHN |
25 | SLC19A3 (Exon 2) | Alaskan Husky Encephalopathy, Subacute Necrotizing Encephalomyelopathy, (SLC19A3) |
25 | SAG | Progressive Retinal Atrophy |
25 | AGXT (Exon 2) | Primary Hyperoxaluria |
27 | ADAMTS20 | Cleft Lip and/or Cleft Palate |
27 | AMHR2 | Persistent Mullerian Duct Syndrome, PMDS |
27 | VWF Exon 4 | Von Willebrand Disease Type III, Type III vWD |
27 | VWF | Von Willebrand Disease Type I |
27 | VWF | Von Willebrand Disease Type II, Type II vWD |
27 | PFKM (Exon 21) | Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency (PFKM Whippet and English Springer Spaniel Variant) |
27 | PFKM (Exon 8) | Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency (PFKM Wachtelhund Variant) |
27 | VDR (Exon 4) | Hereditary Vitamin D-Resistant Rickets |
28 | CHAT (Exon 6) | Congenital Myasthenic Syndrome |
29 | CNGB3 (Exon 6) | Day blindness, Cone Degeneration, Achromatopsia |
29 | PDP1 | Pyruvate Dehydrogenase Deficiency |
29 | PRKDC | Severe Combined Immunodeficiency |
30 | CLN6 (Exon 7) | Neuronal Ceroid Lipofuscinosis 6, NCL 6 |
30 | HEXA | GM2 Gangliosidosis |
31 | SOD1 | Degenerative Myelopathy, DM (SOD1A) |
33 | IQCB1 | Progressive Retinal Atrophy, crd2 |
34 | CCDC39 | Primary Ciliary Dyskinesia, PCD (CCDC39 Exon 3) |
34 | LEPREL1 | Lundehund Syndrome |
36 | ATF2 | Neonatal Encephalopathy with Seizures, NEWS |
36 | TTN | Dilated Cardiomyopathy, DCM2 |
37 | SLC4A3 Exon 16 | Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1 |
37 | CLN8 (Exon 2) | Neuronal Ceroid Lipofuscinosis 8, NCL 8 (CLN8 English Setter Variant) |
37 | CLN8 | Neuronal Ceroid Lipofuscinosis (CLN8 Australian Shepherd Variant) |
37 | MSTN | Myostatin Deficiency, Bully Whippet Syndrome |
38 | KCNJ10 | Spongy Degeneration with Cerebellar Ataxia 1, SDCA1, SeSAME/EAST Syndrome and Spinocerebellar Ataxia with Myokymia and/or Seizures |
X | F9 Exon 7 Variant 2 | Factor IX Deficiency, Hemophilia B (F9 Exon 7, Rhodesian Ridgeback Variant) |
X | F9 Exon 7 Variant 1 | Factor IX Deficiency, Hemophilia B (F9 Exon 7, Terrier Variant) |
X | MTM1 (Exon 7) | Myotubular Myopathy 1, X-linked Myotubular Myopathy, XL-MTM (MTM1, Labrador Variant) |
X | EDA | X-linked Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia (EDA Intron 8) |
X | F8 Exon 11 | Factor VIII Deficiency, Hemophilia A (F8 Exon 11, Shepherd Variant 1) |
X | F8 Exon 10 | Factor VIII Deficiency, Hemophilia A (F8 Exon 10, Boxer Variant) |
X | F8 Exon 1 | Factor VIII Deficiency, Hemophilia A (F8 Exon 1, Shepherd Variant 2) |
X | DMD | Muscular Dystrophy (DMD, Cavalier King Charles Spaniel Variant 1) |
X | DMD | Muscular Dystrophy (DMD Pembroke Welsh Corgi Variant ) |
X | DMD | Muscular Dystrophy (DMD Golden Retriever Variant) |
X | IL2RG | X-linked Severe Combined Immunodeficiency (IL2RG Variant 2) |
X | IL2RG Exon 1 | X-linked Severe Combined Immunodeficiency (IL2RG Variant 1) |
X | PLP | Shaking Puppy Syndrome, X-linked Generalized Tremor Syndrome |
X | COL4A5 (Exon 35) | X-Linked Hereditary Nephropathy, XLHN (COL4A5 Exon 35, Samoyed Variant 2 |
X | SUV39H2 | Hereditary Nasal Parakeratosis |
Traits
Chromosome | Trait(s) | Description |
1 | T | Bobtail gene |
1 | MC5R | The propensity for shedding |
3 | IGF1R | A gene that controls body size. |
4 | STC2, GHR (E195K), GHR (P177L) | More genes that affect body size |
4 | SLC45A2 | Oculocutaneous Albinism Type 2 - OCA2, Doberman Z Factor Albinism |
5 | E Locus (MC1R) | Determines if a dog is recessive red, has a mask, or has a grizzle |
10 | EPAS1 | Altitude Adaptation or how well a dog fares in high altitudes |
10 | M Locus (PMEL) | Merle, Dapple |
11 | B Locus (TYRP1) | Creates liver coloring |
12 | DLA DRB1, DLA DQA1 and DQB1 | Genetic diversity |
13 | RSPO2 | Affects furnishings (the mustache and wire hairs commonly seen in Schnauzers and Poodles) versus improper coats |
15 | IGF1 | Another gene that controls body size |
16 | K Locus (CBD103) | Determines dominant black |
16 | LMBR1 | Determines if a dog will have dew claws |
17 | POMC | Appetite and Obesity Propensity |
17 | FOXI3 | Hairlessness |
18 | ALX4 | The mutation associated with blue eyes |
18 | FGF4 | Chondrodyplasia |
24 | A Locus (ASIP) | Determines fawn, sable, or black-and-tan coloring |
24 | RALY | Saddle Tan |
25 | D Locus (MLPH) | Causes dilute |
27 | KRT71 | Coat Texture |
29 | SGK3 | Hairlessness |
32 | BMP3 | Muzzle Length |
32 | FGF5 | Coat Length |
For the most comprehensive collection of annotated genes and mutations, you can refer to the NCBI Canine Genome assembly (https://www.ncbi.nlm.nih.gov/genome/85). There’s more information from the NHGRI Dog Genome Project as well: https://research.nhgri.nih.gov/dog_genome/study_descriptions/study-genomics_dog_breeds.shtml.
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