Phenotype | ECA | Position | Gene | Associated genotype | Genotype Duelmener | Genotype Arabian | Genotype Sorraia | Genotype Hanoverian 1 | Genotype Hanoverian 2 | References |
---|---|---|---|---|---|---|---|---|---|---|
Severe combined immunodeficiency | 9 | 35,528,429 | DNAPK | 5bp deletion: stop | Not detected | Not detected | Not detected | Not detected | Not detected | [28] |
Cerebellar abiotrophy | 2 | 13,074,277 | TOE1 | G/A substitution: Arg/His | G/G | G/A | G/G | G/G | G/G | [15] |
Glycogen branching enzyme deficiency | 26 | 8,217,062 | GBE1 | C/A substitution: Tyr/stop | C/C | C/C | C/C | C/C | C/C | [29] |
Equine hyperkalemic periodic paralysis | 11 | 15,500,439 | SCN4A | C/G substitution: Phe/Leu | C/C | C/C | C/C | C/C | C/C | [30] |
Polysaccharide storage myopathy (PSSM type 1) | 10 | 18,940,324 | GYS1 | G/A substitution: Arg/His | G/G | G/G | G/G | G/G | G/G | [31] |
Malignant hyperthermia | 10 | 9,554,699 | RYR1 | C/G substitution: Arg/Gly | C/C | C/C | C/C | C/C | C/C | [32] |
Hereditary equine regional dermal asthenia | 1 | 128,056,748 | PPIB | G/A substitution: Gly/Arg | G/G | G/G | G/G | G/G | G/G | |
Junctional epidermolysis bullosa | 8 | 45,603,643 | LAMC2 | C insertion: frameshift/stop | Not detected | Not detected | Not detected | Not detected | Not detected | |
Foal immunodeficiency syndrome | 26 | 30,660,224 | SLC5A3 | C/T substitution: Pro/Leu | C/C | C/C | C/C | C/C | C/C | [37] |