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
rs1801274 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 46
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 63
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1570360 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 38
rs1800469 0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs1800682 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 32
rs1800871 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs1801275 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 58
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
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
rs5030772 0.790 0.320 1 172664210 intron variant A/G snv 9.9E-02 7
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs62514004 0.790 0.240 8 133190246 upstream gene variant A/G snv 0.28 8
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1075496
NRM
0.882 0.160 6 30690462 intron variant C/A snv 0.47 3
rs10889677 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 40
rs17561 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 23