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: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs553668
rs553668
ADRA2A
8 0.807 0.160 10 111079821 3 prime UTR variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7690819
rs7690819 		3 1.000 0.040 4 111199502 intergenic variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.020 0.500 2 2016 2017
dbSNP: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.010 1.000 1 2011 2011
dbSNP: rs1364181648
rs1364181648
SHOC1
3 0.925 0.080 9 111738418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs886205
rs886205
ALDH2
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs4374383
rs4374383
MERTK
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2010 2010
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2014 2014
dbSNP: rs3917356
rs3917356
IL1B
4 0.882 0.160 2 112834786 intron variant C/T snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2009 2009
dbSNP: rs10885390
rs10885390 		3 0.925 0.080 10 112881038 regulatory region variant T/A snv 0.30 0.010 1.000 1 2007 2007
dbSNP: rs11196172
rs11196172
TCF7L2
18 0.708 0.200 10 112967084 intron variant G/A snv 0.13 0.010 < 0.001 1 2016 2016
dbSNP: rs4506565
rs4506565
TCF7L2
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.100 1.000 35 2006 2020
dbSNP: rs7100927
rs7100927
TCF7L2
3 0.925 0.080 10 113036289 intron variant A/G snv 0.54 0.010 1.000 1 2007 2007
dbSNP: rs11196205
rs11196205
TCF7L2
7 0.827 0.200 10 113047288 intron variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs12255372
rs12255372
TCF7L2
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.090 1.000 9 2006 2016
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs290487
rs290487
TCF7L2
10 0.776 0.280 10 113149972 intron variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs290481
rs290481
TCF7L2
9 0.827 0.200 10 113164066 intron variant C/T snv 0.20 0.020 1.000 2 2010 2014