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
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs1064793929 0.882 0.280 17 7675167 frameshift variant A/-;AA delins 5
rs1990172 0.827 0.120 7 20164512 intron variant A/C snv 0.27 6
rs735482 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 16
rs17006625 0.925 0.080 3 20119604 missense variant A/C;G snv 4.0E-06; 3.3E-02 3
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs2239186
VDR
0.882 0.120 12 47875627 intron variant A/C;G snv 0.17 5
rs1057519747 0.716 0.280 17 7675094 missense variant A/C;G;T snv 23
rs1057519975 0.649 0.480 17 7675209 missense variant A/C;G;T snv 34
rs121913412 0.724 0.280 3 41224633 missense variant A/C;G;T snv 19
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs629849 0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91 9
rs760043106 0.645 0.440 17 7674947 missense variant A/C;G;T snv 32
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs6505162 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1046282 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 10
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
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
rs12252 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 23
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs17251221 0.724 0.360 3 122274400 intron variant A/G snv 0.11 18