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
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
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
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
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
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
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
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs104893877 0.614 0.360 4 89828149 missense variant C/T snv 59
rs121912438 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53