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 213
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-06 484
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 28
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
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
rs9138 0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv 12
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
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 13
rs1400826115 1.000 0.080 3 9756770 missense variant A/G snv 4.0E-06 2
rs148704956 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 19
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 187
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs2241880 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 36
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 35
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 97
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 131
rs876658657 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 24
rs879253942 0.677 0.400 17 7673826 missense variant A/G snv 25
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214