Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 3 2013 2017
dbSNP: rs1893592
rs1893592
UBASH3A
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.700 1.000 2 2016 2017
dbSNP: rs7937682
rs7937682
PPP2R1B ; SIK2
2 0.925 0.040 11 111709215 intron variant G/A;C snv 0.700 1.000 2 2013 2017
dbSNP: rs1001007
rs1001007
CCR5AS
5 0.827 0.120 3 46387167 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1004234
rs1004234
IRF1-AS1 ; LINC02863
5 0.827 0.120 5 132421409 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10748781
rs10748781 		11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10758669
rs10758669 		10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10889676
rs10889676
IL23R
5 0.827 0.120 1 67256884 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11098964
rs11098964
ANTXR2
5 0.827 0.120 4 79966815 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11221332
rs11221332
ETS1
13 0.763 0.280 11 128511079 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11230563
rs11230563
CD6 ; LOC105369326
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.700 1.000 1 2016 2016
dbSNP: rs11306716
rs11306716 		5 0.827 0.120 2 203843041 intergenic variant T/-;TT delins 0.700 1.000 1 2016 2016
dbSNP: rs11574938
rs11574938
ITGAL
6 0.827 0.120 16 30474072 missense variant G/A;C snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs11676348
rs11676348 		8 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11750385
rs11750385
LINC02213
5 0.827 0.120 5 10521556 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12188300
rs12188300 		6 0.807 0.120 5 159402519 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1267499
rs1267499
LOC101928354
6 0.807 0.160 6 14715651 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs12942547
rs12942547
STAT3
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1333062
rs1333062
ITLN1
6 0.807 0.200 1 160876494 downstream gene variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs141992399
rs141992399
CARD9 ; DNLZ
5 0.827 0.120 9 136365140 splice donor variant C/G;T snv 3.3E-03; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs17102823
rs17102823 		10 0.776 0.080 14 34894698 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs196941
rs196941
ERN1
5 0.827 0.120 17 64069832 non coding transcript exon variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.700 1.000 1 2016 2016
dbSNP: rs2227551
rs2227551
PLAU
6 0.827 0.120 10 73909432 intron variant G/C;T snv 0.700 1.000 1 2016 2016