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: rs2295080
rs2295080
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.020 1.000 2 2013 2019
dbSNP: rs2298881
rs2298881
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2014 2015
dbSNP: rs36012910
rs36012910
2 0.925 0.080 2 25345310 upstream gene variant A/C;G snv 0.020 1.000 2 2012 2016
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.020 1.000 2 2014 2016
dbSNP: rs6087990
rs6087990
4 0.925 0.080 20 32762102 upstream gene variant T/C;G snv 0.020 1.000 2 2012 2016
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 1.000 2 2012 2018
dbSNP: rs746481984
rs746481984
5 0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs753724
rs753724
4 0.882 0.080 10 94291660 intron variant G/A;C;T snv 0.020 1.000 2 2012 2014
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2006 2007
dbSNP: rs909253
rs909253
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.020 1.000 2 2012 2018
dbSNP: rs911160
rs911160
2 0.925 0.080 20 56382507 intron variant G/A;C snv 0.020 1.000 2 2017 2019
dbSNP: rs9297976
rs9297976
PSCA ; JRK
7 0.790 0.160 8 142670817 intron variant T/C;G snv 0.020 1.000 2 2012 2013
dbSNP: rs1011445550
rs1011445550
2 0.925 0.080 17 7676391 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1042229
rs1042229
7 0.790 0.280 19 51746419 missense variant A/C;G snv 0.32; 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1053023
rs1053023
4 0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057317
rs1057317
5 0.827 0.160 9 117715764 3 prime UTR variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1064261
rs1064261
3 0.925 0.080 1 11228701 missense variant G/A;T snv 0.75; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs10680577
rs10680577
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.010 1.000 1 2014 2014
dbSNP: rs10719
rs10719
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs10739971
rs10739971
5 0.882 0.080 9 94175398 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs10746463
rs10746463
4 0.851 0.200 1 207337251 missense variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11084490
rs11084490
2 0.925 0.080 19 57231104 5 prime UTR variant G/A;C;T snv 0.87; 3.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs111238176
rs111238176
4 0.851 0.160 1 172665840 missense variant A/G snv 0.010 < 0.001 1 2013 2013