Gene
|
Location
|
rsID
|
Polymorphic region
|
Amino acid change
|
MAF (controls)
|
---|
DCN
|
12q21.33
|
rs7441
|
Ex8 G/A 3' UTR
| |
0.06
|
| |
rs3138268
|
Ex7 G/A
|
Met268Thr
|
0
|
| |
rs516115
|
IVS3 A/G
| |
0.26
|
| |
rs3138165a
|
IVS1 G/A 5' UTR
| |
0.06
|
| |
rs2070985a
|
IVS1 G/C 5' UTR
| |
0.06
|
| |
rs741212
|
IVS1 A/G 5' UTR
| |
0.12
|
| |
rs13312816a
|
IVS1 A/T
| |
0.06
|
| |
rs10492230
|
G/A 5' upstream
| |
0.16
|
LUM
|
12q21.3–q22
|
rs1920790
|
A/C 3' downstream
| |
0.12
|
| |
rs17714469
|
G/A 3' downstream
| |
0.10
|
| |
rs10745553
|
IVS2 G/C
| |
0.15
|
| |
rs2268578
|
IVS2 G/A
| |
0.11
|
| |
rs10859110
|
IVS1 G/A
| |
0.22
|
| |
rs17018765
|
A/G 5' upstream
| |
0.06
|
- aLinkage disequilibrium r2 ≥ 0.98 for all pairwise combinations of these SNPs.