Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs9841504
ZBTB20
0.827 0.120 3 114643917 intron variant C/G;T snv 7
rs3747093
YDJC
0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 16
rs828907
XRCC5
0.827 0.160 2 216108009 intron variant G/T snv 0.37 6
rs28360071
XRCC4
0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs861528
XRCC3 ; ZFYVE21
0.925 0.080 14 103716661 intron variant C/T snv 0.17 2
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs148611340
XRCC1
0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05 7
rs2293035
XRCC1
0.882 0.080 19 43546923 synonymous variant G/A snv 1.6E-04 1.5E-04 3
rs377566281
XRCC1
0.925 0.080 19 43552083 missense variant C/T snv 5.6E-05 2.1E-05 3
rs2607775
XPC ; LSM3
0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 8
rs1870134
XPC ; LSM3
0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 5
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2470352
XPC
0.925 0.080 3 14145330 missense variant A/G;T snv 1.7E-03; 0.15 2
rs535242729
XPC
0.925 0.080 3 14172913 missense variant G/A snv 2
rs2808668
XPA
0.851 0.120 9 97690153 intron variant C/G;T snv 7
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 7
rs1408543226
XPA
0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 6
rs207454
XDH
0.851 0.120 2 31344766 intron variant T/G snv 0.11 0.16 4
rs494852
XDH
0.925 0.080 2 31401970 intron variant C/T snv 0.21 2
rs1799750
WTAPP1 ; MMP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs6976500
WEE2-AS1 ; SSBP1
0.925 0.080 7 141737464 non coding transcript exon variant G/C snv 0.44 2
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67