Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs217434 7 44513639 synonymous variant A/G snv 0.16 0.17 1
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
rs711752 1.000 0.040 16 56962299 splice region variant G/A;C snv 10
rs2072183 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 6
rs2297322 1.000 0.040 13 98723927 missense variant C/G;T snv 0.22 4
rs36217263
KL
1.000 0.040 13 33015697 upstream gene variant A/- del 0.21 4
rs4845623 0.925 0.040 1 154443301 intron variant A/G snv 0.47 4
rs633389 1.000 0.040 11 116796621 upstream gene variant C/T snv 0.13 4
rs1211098985 1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06 3
rs2472386 1.000 0.040 9 104839260 intron variant G/A snv 0.47 3
rs28942112 0.925 0.040 1 55052400 missense variant T/C snv 3
rs4253778 1.000 0.040 22 46234737 intron variant G/C;T snv 3
rs10488698 1.000 0.040 11 116763231 missense variant G/A snv 6.4E-02 4.8E-02 2
rs11066782 1.000 0.040 12 109472747 intron variant C/T snv 0.17 2
rs11067233 1.000 0.040 12 109556403 3 prime UTR variant C/G snv 0.23 0.24 2
rs11613718 1.000 0.040 12 109474527 intron variant C/T snv 0.17 2
rs11774572 1.000 0.040 8 11589291 regulatory region variant C/G;T snv 2