Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17070145 0.790 0.120 5 168418786 intron variant C/T snv 0.43 10
rs10073892 5 102391066 non coding transcript exon variant T/C snv 0.24 0.21 1
rs2973488 5 11043805 intron variant A/T snv 0.19 1
rs7700443 5 85876294 intergenic variant T/G snv 0.57 1
rs75932628 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs1143684 0.882 0.160 6 3010156 missense variant C/T snv 0.79 0.84 4
rs1187120 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 3
rs1206642175 0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06 3
rs6910730 0.925 0.080 6 41278895 intron variant A/G snv 0.21 3
rs7759295 1.000 0.040 6 41168112 upstream gene variant C/G;T snv 2
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs375752214 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 22
rs747105516 0.851 0.120 7 56015139 missense variant T/C snv 4.0E-06 5
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56 19
rs8191664 0.807 0.200 8 11786044 missense variant G/A;C;T snv 4.0E-05; 3.8E-02 7
rs16885997 8 114496877 intergenic variant G/T snv 3.5E-02 1
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs10512015 9 73166330 intron variant T/C snv 9.9E-02 1
rs73643144
TEK
9 27126454 intron variant T/C snv 3.5E-02 1
rs761715536 1.000 0.040 10 111079092 stop gained G/A;T snv 6.4E-06; 1.3E-05 3
rs1554950703 1.000 0.200 10 122489463 missense variant C/G snv 2
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs727502818 0.790 0.160 11 17772053 missense variant G/A snv 26