Table 4 |
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|
Analysis of genetic variants for known traits and diseases |
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|
PMID |
Chromosome |
Coordinate |
Gene |
Gene Name |
Phenotype |
Associated Genotype |
QH Genotype |
|
|
|||||||
|
20353955 [32] |
1 |
108,249,293 |
TRPM1 |
transient receptor potential cation channel |
Leopard complex spotting and congenital stationary night blindness |
C/C C/T |
T/T |
|
17498917 [12] |
1 |
128,056,148 |
PPIB |
peptidyl-prolyl cis-trans isomerase B |
Hereditary equine regional dermal asthenia |
A/A |
G/A |
|
20419149 [33] |
1 |
138,235,715 |
MYO5A |
myosin-Va isoform 1 |
Lavender foal syndrome |
Del 1 bp |
Neg |
|
8995760 [34] |
3 |
36,259,552 |
MC1R |
melanocyte-stimulating hormone receptor |
Chestnut coat color |
T/T |
C/T |
|
11086549 [17] |
3 |
36,259,554 |
MC1R |
melanocyte-stimulating hormone receptor |
Chestnut coat color |
A/A |
G/G |
|
16284805 [35] |
3 |
77,735,520 |
KIT |
mast/stem cell growth factor receptor |
Sabino spotting |
A/A A/T |
T/T |
|
18253033 [36] |
3 |
77,740,163 |
KIT |
mast/stem cell growth factor receptor |
Tobiano spotting pattern |
A/A A/G |
G/G |
|
21070277 [6] |
4 |
38,969,307 |
PDK4 |
pyruvate dehydrogenase kinase isozyme 4 |
Racing performance |
A/A A/C |
C/C |
|
21070277 [6] |
4 |
38,973,231 |
PDK4 |
pyruvate dehydrogenase kinase isozyme 4 |
Racing performance |
A/A A/G |
G/G |
|
12230513 [37] |
5 |
20,256,789 |
LAMC2 |
laminin subunit gamma-2 precursor |
Junctional epidermolysis bullosa |
Ins C |
Neg |
|
17029645 [38] |
6 |
73,665,304 |
PMEL17 |
melanocyte protein 17 precursor |
Silver coat color |
T/T T/C |
C/C |
|
19016681 [39] |
8 |
45,603,643-45,610,231 |
LAMA3 |
laminin alpha-3 |
Junctional epidermolysis bullosa |
Del 6,589 |
Neg |
|
9103416 [40] |
9 |
35,528,429 |
DNAPK |
DNA-dependent protein kinase catalytic subunit |
Severe combined immunodeficiency |
Del 5 bp |
Neg |
|
15318347 [41] |
10 |
9,554,699 |
RYR1 |
ryanodine receptor 1 isoform 2 |
Malignant hyperthermia |
G/G G/C |
C/C |
|
21059062 [19] |
10 |
15,884,567 |
CKM |
creatine kinase M-type |
Racing performance |
A/A A/G |
G/G |
|
18358695 [7] |
10 |
18,940,324 |
GYS1 |
glycogen [starch] synthase muscle |
Polysaccharide storage myopathy |
A/A A/G |
G/G |
|
7623088 [42] |
11 |
15,500,439 |
SCN4A |
sodium channel protein type 4 subunit alpha |
Equine hyperkalemic periodic paralysis |
G/G G/C |
C/C |
|
18802473 [43] |
14 |
26,701,092 |
SLC36A1 |
proton-coupled amino acid transporter 1 |
Champagne dilution |
C/C C/G |
G/G |
|
9580670 [44] |
17 |
50,624,658 |
EDNRB |
endothelin B receptor precursor |
Lethal white foal syndrome |
AG/AG |
TC/TC |
|
20932346 [18] |
18 |
66,493,737 |
MSTN |
growth/differentiation factor 8 precursor |
Optimum racing distance |
T/T |
T/T |
|
12605854 [45] |
21 |
30,666,626 |
SLC45A2 |
membrane-associated transporter protein isoform |
Cream coat color |
A/A A/G |
G/G |
|
21059062 [19] |
22 |
22,684,390 |
COX4I2 |
cytochrome c oxidase subunit 4 isoform 2 |
Racing performance |
T/T T/C |
T/T |
|
11353392 [46] |
22 |
25,168,567 |
ASIP |
agouti-signaling protein precursor |
Black and bay color |
Del 11 bp |
ND |
|
18641652 [47] |
25 |
6,574,013-6,581,600 |
STX17 |
syntaxin 17 |
Gray coat color |
Dup 4,600 |
Neg |
|
|
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|
Abbreviations: Del, Deletion; Ins, Insertion; Neg, Negative; ND, Not Determined; Dup, Duplication |
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|
Doan et al. BMC Genomics 2012 13:78 doi:10.1186/1471-2164-13-78 |
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