Known functional variants
|
Splice site
|
6
|
31,380,000
|
rs199503730
|
G/−
|
0.0447
|
MICA
|
5′ ss
|
–
|
rs2395029 (2.00E-26, [19])
|
0.8860
|
Exon
|
1
|
25,291,010
|
rs6672420
|
A/T
|
0.4791
|
RUNX3
|
I/N
|
–
|
rs7536201 (2.00E-12, [25]; 2.00E-08, [29])
|
0.9046
|
1
|
67,705,958
|
rs11209026
|
A/G
|
0.9384
|
IL23R
|
Q/R
|
–
|
rs11209026 (7.00E-07, [24])
|
1.0000
|
| | | | | | | |
rs9988642 (1.00E-26 [25]; 7.00E-14, [29])
|
0.8520
|
6
|
31,473,957
|
rs3134900
|
(C/G)?
|
NR
|
MICB
|
I/M
|
MHC class I-like antigen recognition-like, MHC classes I/II-like antigen recognition protein
|
rs3134792 (1.00E-09, [18])
|
0.8008
|
6
|
111,913,262
|
rs33980500
|
C/T
|
0.0855
|
TRAF3IP2
|
D/N
|
–
|
rs33980500 (1.00E-16, [23]; 4.00E-45, [25]; 1.00E-23, [29])
|
1.0000
|
17
|
78,178,893
|
rs11652075
|
T/C
|
0.5099
|
CARD14
|
W/R
|
–
|
rs11652075 (3.00E-08, [25])
|
1.0000
|
19
|
10,463,118
|
rs34536443
|
C/G
|
0.9712
|
TYK2
|
A/P
|
Protein kinase domain, Protein kinase-like domain, Serine–threonine/tyrosine–protein kinase, catalytic domain, Tyrosine–protein kinase
|
rs34536443 (9.00E-31, [25])
|
1.0000
|
19
|
10,469,975
|
rs12720356
|
C/A
|
0.9076
|
TYK2
|
S/I
|
Protein kinase domain, Protein kinase-like domain, Serine–threonine/tyrosine–protein kinase, catalytic domain, Tyrosine–protein kinase
|
rs12720356 (4.00E-11, [25])
|
1.0000
|
19
|
49,206,674
|
rs601338
|
G/A
|
0.4414
|
FUT2
|
W/*
|
–
|
rs492602 (7.00E-13, [30])
|
0.9920
|
19
|
49,206,985
|
rs602662
|
G/A
|
0.4682
|
FUT2
|
G/S
|
–
|
rs492602 (7.00E-13, [30])
|
0.8822
|
22
|
21,982,892
|
rs2298428
|
C/T
|
0.1769
|
YDJC
|
A/T
|
Glycoside hydrolase/deacetylase, beta/alpha-barrel
|
rs181359 (2.00E-07, [29])
|
0.8941
|
| | | | | | | |
rs4821124 (4.00E-08, [25])
|
0.9477
|
Newly identified functional variants
|
Splice site
|
5
|
96,245,518
|
rs2549797
|
G/A
|
0.5199
|
ERAP2
|
5′ ss
|
–
|
rs2910686 (2.00E-08, [25])
|
0.8051
|
Exon
|
12
|
5,660,905
|
rs60542959
|
T/G
|
0.9344
|
COQ10A
|
I/M
|
–
|
rs2066807 (5.00E-12, [27])
|
0.9523
|
| | | | | | | |
rs2066808 (6.00E-10, [26])
|
0.9388
|
| | | | | | | |
rs2066819 (5.00E-17, [25])
|
0.9517
|
17
|
73,874,071
|
rs4600514
|
G/A
|
0.1650
|
TRIM47
|
R/W
|
B-box-type zinc finger, Zinc finger RING/FYVE/PHD-type
|
rs55823223 (1.00E-08, [30])
|
0.9075
|