Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
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
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs397514698 0.667 0.400 9 77797577 missense variant C/T snv 52
rs1063192 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 24
rs3825942 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 15
rs267607093 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 14
rs7865618 0.776 0.240 9 22031006 non coding transcript exon variant G/A;T snv 11
rs28936700 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 9
rs74315330 0.776 0.080 1 171636331 missense variant G/A snv 9
rs28939688 0.807 0.040 10 13109270 missense variant G/A snv 7
rs33912345 0.807 0.200 14 60509819 missense variant C/A;G snv 0.53 7
rs199746824 0.807 0.040 1 171652139 missense variant C/G;T snv 4.0E-06; 1.6E-05 6
rs74315328 0.807 0.120 1 171636131 missense variant A/G snv 6
rs12377632 0.827 0.120 9 117710452 intron variant T/A;C snv 5
rs267606929 0.827 0.120 10 13132098 missense variant A/G snv 5
rs121918071
TTR
0.882 0.240 18 31595209 missense variant C/A snv 4
rs2234927 0.851 0.040 1 171638703 missense variant G/A;C snv 4.0E-06; 7.6E-04 4
rs7081455 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 4
rs74315336 0.851 0.040 1 171636173 missense variant T/C snv 4
rs74315341 0.851 0.040 1 171636686 missense variant C/T snv 4