Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43