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
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs16405 0.882 0.120 10 101553963 3 prime UTR variant AACAGTGGA/- del 0.31 4
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs28381975 0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 5
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33
rs10012 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 16
rs10053538 0.807 0.160 5 157110499 intron variant C/A;T snv 7
rs10204525 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 20
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1043210477 0.701 0.520 3 49358250 missense variant G/A snv 19
rs1045411 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 18
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1047972 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 19
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs10514231 0.807 0.160 5 82011593 intron variant C/T snv 0.56 6
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1057519975 0.649 0.480 17 7675209 missense variant A/C;G;T snv 34