Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
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
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs231775 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs2236225 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs368087026 0.637 0.520 21 45530890 missense variant G/A snv 33
rs1448674651 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs201765376
MTR
0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 12