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: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs10911021
rs10911021
11 0.807 0.160 1 182112825 intron variant C/T snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs281432
rs281432
12 0.851 0.280 19 10279982 intron variant C/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs4646156
rs4646156
2 X 15578920 intron variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs114303883
rs114303883
8 1.000 0.160 16 16182534 stop gained C/A;T snv 9.1E-05 4.2E-05 0.700 0
dbSNP: rs1481200467
rs1481200467
7 0.925 0.200 16 16173393 stop gained G/C;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs199473620
rs199473620
2 1.000 0.080 3 38554372 stop gained C/A;T snv 0.700 0
dbSNP: rs66492417
rs66492417
10 0.882 0.240 16 16178909 stop gained G/T snv 0.700 0
dbSNP: rs72650699
rs72650699
12 0.851 0.280 16 16202045 stop gained G/A snv 4.8E-05 1.8E-04 0.700 0
dbSNP: rs72650700
rs72650700
12 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs72653706
rs72653706
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs72653744
rs72653744
14 0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04 0.700 0
dbSNP: rs1064794259
rs1064794259
2 1.000 0.080 19 11113615 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs146243018
rs146243018
1 18 22200698 missense variant C/G snv 2.5E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs370588269
rs370588269
1 8 11756964 missense variant G/A snv 2.4E-05 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs3742264
rs3742264
17 0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35 0.010 1.000 1 2003 2003
dbSNP: rs770696696
rs770696696
2 1.000 0.080 19 11113738 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1555512158
rs1555512158
6 0.925 0.200 16 16177554 missense variant C/G snv 0.700 0
dbSNP: rs2856597
rs2856597
5 0.925 0.200 16 16219935 missense variant C/T snv 3.0E-04 0.700 0
dbSNP: rs28939702
rs28939702
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 0.700 0
dbSNP: rs60791294
rs60791294
11 0.882 0.280 16 16163086 missense variant C/G;T snv 7.6E-05 0.700 0
dbSNP: rs63749794
rs63749794
7 0.925 0.160 16 16163159 missense variant G/A snv 9.2E-05 4.2E-05 0.700 0
dbSNP: rs63749796
rs63749796
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs63749856
rs63749856
11 0.851 0.200 16 16155010 missense variant C/T snv 4.8E-05 2.8E-05 0.700 0