Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs1800497 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 56
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 56
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 55
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 55
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 54
rs1042714 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 53
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 51
rs1143634 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 51
rs2236225 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 51
rs953038635 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 51
rs3775291 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs2430561 0.590 0.760 12 68158742 intron variant T/A snv 0.36 50
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48