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: rs11571833
rs11571833
31 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 2 2014 2018
dbSNP: rs1126809
rs1126809
12 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.710 1.000 1 2009 2019
dbSNP: rs12203592
rs12203592
16 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.710 1.000 1 2011 2019
dbSNP: rs12296850
rs12296850
2 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.710 1.000 1 2013 2013
dbSNP: rs16891982
rs16891982
6 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.710 1.000 1 2009 2016
dbSNP: rs1800407
rs1800407
6 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.710 1.000 1 2009 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.090 0.889 9 1999 2018
dbSNP: rs1131691014
rs1131691014
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.875 8 1999 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.875 8 1999 2014
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2012 2017
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2013 2016
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2013 2016
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2013 2016
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.030 0.667 3 2011 2016
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2002 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2007 2018
dbSNP: rs401681
rs401681
36 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.030 1.000 3 2011 2014
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2011 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2007 2016
dbSNP: rs121913483
rs121913483
14 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.020 1.000 2 2001 2018
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2005 2009
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 1.000 2 2009 2009
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.020 1.000 2 2012 2016
dbSNP: rs2274223
rs2274223
39 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.020 1.000 2 2012 2013
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2013 2014