Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs62068372 0.925 0.080 16 89718699 intron variant T/C;G snv 2
rs752907384 0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06 6
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv 26
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 13
rs4516035
VDR
0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31 10
rs2107301
VDR
0.807 0.120 12 47861787 intron variant G/A snv 0.26 7
rs7975128
VDR
1.000 0.040 12 47852045 intron variant G/A snv 0.34 1
rs1320553543 1.000 0.040 19 6836546 missense variant A/T snv 1
rs1359132498 1.000 0.040 17 82374361 missense variant G/A snv 1
rs1382979668 1.000 0.040 11 113809254 missense variant T/A snv 4.0E-06 1
rs10830253
TYR
0.851 0.080 11 89294875 intron variant T/G snv 0.29 4
rs200476704 1.000 0.040 17 7930659 stop gained G/A;C snv 2.4E-05 1
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47