Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs11283943
MCC
0.882 0.160 5 113071088 splice donor variant -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT delins 4
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs132793 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 7
rs1989969
VDR
0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60 8
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2682818 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 14
rs6505162 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs132770 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 14
rs13281615 0.716 0.360 8 127343372 intron variant A/G snv 0.43 18
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs3850641 0.716 0.400 1 173206693 intron variant A/G snv 0.14 17
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs568887534 0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 9
rs5743836 0.658 0.440 3 52226766 intron variant A/G snv 0.20 31
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs762292600 0.925 0.080 6 151944316 missense variant A/G snv 4.0E-06 1.4E-05 7