Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893 0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1276519904 0.645 0.520 1 226071445 missense variant A/G snv 63
rs2476601 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 39
rs1557781252 0.742 0.320 1 153816414 stop gained G/A snv 33
rs137854889 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs752746786 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs61816761 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 28
rs6679677 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 26
rs80338903 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs745886248 0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 25
rs121908188 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs199564797 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 25
rs629301 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 22
rs765379963 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs121913255 0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs387906846 0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1057518879 0.776 0.280 1 11965571 stop gained G/A snv 19
rs1057941 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 18
rs1553154130 0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1553284997 0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs672601334 0.752 0.400 1 155904798 missense variant G/C snv 17
rs2974935 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 17
rs11119608 0.708 0.280 1 210816167 intron variant T/G snv 0.21 17
rs186507655 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 17