Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4420638 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 43
rs1557372 1.000 0.040 21 41460614 downstream gene variant C/T snv 0.40 2
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 20
rs1800764 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 10
rs7759295 1.000 0.040 6 41168112 upstream gene variant C/G;T snv 2
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs312262717 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs4646 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 16
rs3763043 0.925 0.080 18 26855854 3 prime UTR variant C/T snv 0.30 3
rs2071430
MX1
0.807 0.320 21 41426138 5 prime UTR variant G/T snv 0.15 7
rs457274
MX1
1.000 0.040 21 41420558 5 prime UTR variant C/G snv 0.35 2
rs4818 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs1126680 0.851 0.160 3 165837337 synonymous variant C/T snv 5.6E-02 5.6E-02 5
rs1206642175 0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06 3
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs769449 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 11
rs10073892 5 102391066 non coding transcript exon variant T/C snv 0.24 0.21 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
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