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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2019
dbSNP: rs2258447
rs2258447
MUC4
1 1.000 0.040 3 195752385 missense variant T/A;C snv 0.89 0.010 1.000 1 2011 2011
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs2688513
rs2688513
MUC4
1 1.000 0.040 3 195778793 missense variant G/A;C;T snv 0.79; 4.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs1104760
rs1104760
MUC4
1 1.000 0.040 3 195790450 missense variant G/A;T snv 0.78; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2008 2009
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2007 2017
dbSNP: rs2246901
rs2246901
MUC4
3 0.882 0.080 3 195762138 missense variant C/A;T snv 0.67 0.010 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.060 0.833 6 2007 2016
dbSNP: rs4636297
rs4636297
EGFL7 ; MIR126
14 0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65 0.010 1.000 1 2017 2017
dbSNP: rs10953316
rs10953316
MUC17
1 1.000 0.040 7 101038481 synonymous variant A/C;G;T snv 8.0E-06; 0.64 0.010 1.000 1 2015 2015
dbSNP: rs3783550
rs3783550
IL1A
5 0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs2278868
rs2278868
SKAP1
2 0.925 0.080 17 48184809 missense variant C/T snv 4.0E-06; 0.63 0.55 0.700 1.000 1 2018 2018
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.040 1.000 4 2011 2018
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2011 2011
dbSNP: rs605059
rs605059
HSD17B1 ; LOC108783654
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.050 0.800 5 2005 2017
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.030 1.000 3 2012 2018
dbSNP: rs13394619
rs13394619
GREB1
1 1.000 0.040 2 11587381 splice acceptor variant G/A snv 0.53 0.61 0.840 1.000 4 2012 2015
dbSNP: rs2294021
rs2294021
CCDC22
8 0.776 0.280 X 49249149 intron variant T/A;C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs2072454
rs2072454
EGFR
9 0.763 0.160 7 55146655 synonymous variant C/T snv 0.51 0.51 0.010 1.000 1 2019 2019
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2019 2019
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 < 0.001 1 2013 2013
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2011 2019