Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559931177 0.827 0.120 3 49047207 stop gained G/A snv 34
rs34757931 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs80338903 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs1562127631 0.742 0.360 6 78961751 frameshift variant C/- del 24
rs771379232 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 15
rs753635972 0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 15
rs28936375 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 13
rs869312697 0.882 0.400 6 157207241 stop gained C/T snv 8
rs63750756 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 5
rs1555631390
TTR
0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins 4
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 4
rs74315431 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 4
rs121909717 0.925 0.120 17 44908075 missense variant G/A;C;T snv 1.2E-04 1
rs104893856 0.827 0.080 4 41746162 missense variant C/T snv 1