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: rs1734907
rs1734907 		4 0.925 0.080 7 100717894 upstream gene variant A/G snv 0.84 0.800 1.000 1 2012 2012
dbSNP: rs314313
rs314313
EPHB4 ; SLC12A9
2 1.000 0.040 7 100825743 intron variant T/A;C;G snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs34688635
rs34688635
NOX1
1 X 100850206 missense variant C/T snv 1.9E-02 2.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs16910526
rs16910526
CLEC7A ; LOC105369655
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs503734
rs503734
IMPG2
2 1.000 0.040 3 101304904 intron variant A/G snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs13126505
rs13126505
BANK1
3 1.000 0.040 4 101944147 intron variant G/A snv 4.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs13001325
rs13001325
IL18R1 ; IL1RL1
3 1.000 0.040 2 102322576 intron variant C/T snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs1420098
rs1420098
IL18R1
1 2 102367819 splice region variant T/C snv 0.35 0.33 0.700 1.000 1 2015 2015
dbSNP: rs2058660
rs2058660
IL18RAP
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs6708413
rs6708413
IL18RAP
2 1.000 0.040 2 102446909 intron variant G/A snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.810 1.000 2 2008 2012
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2017 2017
dbSNP: rs2274351
rs2274351
ACTR1A ; SUFU
1 10 102504350 intron variant C/G;T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 1.000 2 2006 2006
dbSNP: rs1426809883
rs1426809883
ICAM1
1 19 10284797 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 1.000 6 2003 2015
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs35018800
rs35018800
TYK2
9 0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 0.010 1.000 1 2015 2015
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 2015 2015
dbSNP: rs11879191
rs11879191
CDC37
2 1.000 0.040 19 10402235 intron variant G/A;C snv 0.800 1.000 2 2012 2017
dbSNP: rs35164067
rs35164067
CDC37
2 1.000 0.040 19 10414505 intron variant G/A snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 0.500 2 2006 2007
dbSNP: rs2189234
rs2189234
TET2
3 1.000 0.040 4 105154341 intron variant T/G snv 0.62 0.700 1.000 1 2015 2015
dbSNP: rs6568421
rs6568421 		2 1.000 0.040 6 105987150 regulatory region variant A/G snv 0.23 0.800 1.000 1 2012 2012
dbSNP: rs7746082
rs7746082 		5 0.851 0.160 6 105987394 regulatory region variant G/A;C snv 0.700 1.000 1 2017 2017