Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs1883832 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs1799724
LTA ; TNF
0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 47
rs1799964 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 47
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs1800797 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39