Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1408630981 0.827 0.120 7 55205492 missense variant C/G snv 4.0E-06 5
rs1412125 0.724 0.360 13 30467458 intron variant C/G;T snv 17
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1625895 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 13
rs1635498 0.807 0.160 1 241881973 missense variant C/A;G;T snv 0.96 9
rs17577 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 31
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1800264
DMD
0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03 5
rs1800371 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 15
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs1801270 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22
rs1982073 0.649 0.640 19 41353016 missense variant G/A;C snv 32
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2075685 0.724 0.320 5 83076846 intron variant G/A;T snv 14
rs2107425 0.732 0.280 11 1999845 intron variant C/T snv 16
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34