Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs549467183 0.925 0.080 2 47475228 missense variant G/A snv 1.3E-04 3.5E-05 2
rs1064793981 1.000 0.040 2 47475030 missense variant G/A snv 1
rs1295445617 1.000 0.040 2 47403398 synonymous variant G/A;C;T snv 4.5E-06; 4.5E-06 1
rs3732183 1.000 0.040 2 47466820 intron variant G/A;T snv 0.34; 4.0E-06 0.40 1
rs6743068 1.000 0.040 2 201289197 intron variant A/G snv 0.72 1
rs774121564 1.000 0.040 2 275197 missense variant C/G snv 4.1E-06 1
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs752742313 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs876658657 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs577715207 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 8
rs2229090
XPC
0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 6
rs181696 0.925 0.080 3 155548315 intron variant T/C snv 0.55 3
rs2239612 1.000 0.040 3 187075454 intron variant G/A snv 0.17 2
rs1064793400 1.000 0.040 3 37048550 missense variant G/A snv 1
rs11707807
LPP
1.000 0.040 3 188370473 intron variant A/G snv 0.36 1
rs1607237 1.000 0.040 3 179232509 intron variant C/T snv 0.68 1
rs62246017 1.000 0.040 3 71433933 intron variant G/A;C snv 1
rs6791479 1.000 0.040 3 189487243 intergenic variant T/A snv 0.48 1
rs764496629 1.000 0.040 3 12590859 missense variant C/T snv 1
rs779759678 1.000 0.040 3 36993556 missense variant C/G snv 4.0E-06 3.5E-05 1
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83