Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1031583860 0.882 0.080 11 58709815 missense variant T/C snv 3
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs1064795638 0.851 0.080 3 52403251 stop gained G/A snv 7
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1136201 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1169803481 0.807 0.160 7 55198851 missense variant A/G snv 4.0E-06 7
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs12785878 0.677 0.520 11 71456403 intron variant G/A;T snv 25
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 9
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 27
rs1800858
RET
0.851 0.160 10 43100520 synonymous variant A/C;G snv 0.73 4
rs187238 0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs2227869 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 9
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs2708896 0.882 0.080 7 47955186 upstream gene variant T/C;G snv 3
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs747463591 0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06 3