Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2146204 1 168904861 intron variant A/C snv 0.13 1
rs403814 18 6282594 intron variant A/C snv 0.27 1
rs4900318 14 96222623 intron variant A/C snv 0.54 1
rs751019 8 27451068 missense variant A/C snv 0.44 0.41 1
rs7961152 12 24828677 intron variant A/C snv 0.61 1
rs2069837 0.724 0.520 7 22728408 intron variant A/C;G snv 18
rs1043307 0.776 0.360 12 121915890 missense variant A/C;G snv 14
rs7859384 0.882 0.120 9 79507370 intron variant A/C;G snv 6
rs2932538 1 112673921 intron variant A/C;G snv 4
rs6418 8 142914947 intron variant A/C;G snv 0.42 4
rs10927887 0.925 0.040 1 16024780 missense variant A/C;G snv 0.55 3
rs5963409
OTC
1.000 0.080 X 38351716 intron variant A/C;G snv 3
rs7006531 8 94098516 intron variant A/C;G snv 3
rs10770141 1.000 0.120 11 2172610 upstream gene variant A/C;G snv 2
rs235756 1.000 0.080 20 6786464 intergenic variant A/C;G snv 2
rs4948878 1.000 0.040 10 44379373 intron variant A/C;G snv 2
rs995322 8 3570011 intron variant A/C;G snv 1
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs35767 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 13
rs17465637 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 11
rs7310409 0.925 0.160 12 120987058 intron variant A/C;G;T snv 7
rs2270915 1.000 0.040 5 32786283 missense variant A/C;G;T snv 0.21 0.18 2
rs5707
REN
1.000 0.040 1 204160543 intron variant A/C;G;T snv 0.25; 2.0E-05; 1.2E-05 2
rs12715461 3 53544856 intron variant A/C;G;T snv 1