Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2229268 2 169168573 synonymous variant A/G snv 0.20 0.16 1
rs233575 X 15564843 intron variant G/A snv 1
rs3060 11 75800527 3 prime UTR variant T/C snv 0.14 0.22 1
rs4646142 X 15584941 intron variant G/A;C snv 1
rs66698963 11 61835025 intron variant ACTTCTCCCTGCCTCCCCAGGGACTTCTCCCTGCCTCCCCAGGG/-;ACTTCTCCCTGCCTCCCCAGGG delins 0.56 1
rs7003945 8 144326802 5 prime UTR variant G/A;C snv 1
rs730882087 19 11106640 missense variant GG/AC mnv 1
rs751671151 8 42180286 missense variant A/G snv 4.0E-06 1.4E-05 1
rs770730728 7 44147757 synonymous variant G/A snv 4.0E-06 7.0E-06 1
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
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs7903146 0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77