Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs402710 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs6104 0.807 0.160 18 63903295 missense variant C/G snv 0.29 0.28 6
rs16969968 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 37
rs717620 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 10
rs4760 1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11 8
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1138272 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs1799814 0.807 0.160 15 74720646 missense variant G/A;T snv 1.6E-05; 3.1E-02 8
rs4866 0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02 5
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 16
rs11571833 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs55985569
MET
0.925 0.080 7 116699588 missense variant G/A;T snv 3.7E-03 3
rs34589476
MET
0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03 7
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs750078923 1.000 0.080 22 25769052 missense variant G/A;C snv 1.6E-05 1
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 6
rs753660142 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 19
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs121909224 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41