Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs138213197 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24
rs78311289 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 25
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs2294008
PSCA ; JRK
0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 28
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs121913483 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58