Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 98
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs368087026 0.637 0.520 21 45530890 missense variant G/A snv 33
rs121912654 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 19
rs1219648 0.716 0.320 10 121586676 intron variant A/G;T snv 16
rs2233678 0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 14
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 10
rs3741378 0.851 0.080 11 65641466 missense variant C/G;T snv 0.15 5
rs1351211430 0.851 0.120 19 45369118 synonymous variant G/A;C snv 8.0E-06 4
rs730881500 0.882 0.080 17 43045769 missense variant G/A snv 8.0E-06 3
rs182176585 1.000 0.080 13 41372227 missense variant G/A;C snv 1.3E-04; 4.3E-06 1
rs968728714
VDR
1.000 0.080 12 47904629 start lost A/G;T snv 1.5E-05; 7.4E-06 1
rs587782555 0.882 0.080 2 214728935 missense variant A/G snv 7.0E-06 3
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs373204088 1.000 0.080 12 46209126 missense variant C/T snv 4.1E-06 7.0E-06 1
rs34301344 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs5744168 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 17
rs2233682 0.827 0.240 19 9838476 synonymous variant G/A snv 3.7E-02 6.3E-02 5