Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1816158
MIR100HG
0.925 0.200 11 122155752 intron variant C/A;T snv 3
rs4975616 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 12
rs28903090
RAD50
0.925 0.120 5 132587981 missense variant G/T snv 1.2E-03 1.4E-03 2
rs115160714
TOPBP1
0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 9
rs5744455
CD14 ; TMCO6
0.882 0.160 5 140633722 upstream gene variant G/A;T snv 5
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs4725443
KMT2C
0.925 0.120 7 152170176 intron variant T/C snv 9.3E-02 2
rs6464211
KMT2C
0.925 0.160 7 152176768 synonymous variant C/T snv 0.24 0.34 2
rs6943984
KMT2C
0.925 0.120 7 152201919 intron variant G/A snv 0.11 2
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs748148861
CCR6
0.925 0.120 6 167136856 missense variant G/C snv 8.0E-06 2
rs865789884
TNFRSF10D
0.925 0.120 8 23145778 missense variant G/A;C snv 4.0E-06 2
rs4148323
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A3 ; UGT1A5 ; UGT1A6 ; UGT1A8 ; UGT1A1 ; UGT1A4
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 22
rs56161233
SH3BP4
0.925 0.120 2 235055489 3 prime UTR variant C/T snv 0.11 2
rs6877842
DROSHA ; C5orf22
0.807 0.320 5 31532531 intron variant G/C snv 0.16 7
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1056827
CYP1B1 ; CYP1B1-AS1
0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 24
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1799778
XRCC1
1.000 0.120 19 43554989 intron variant G/T snv 0.31 1
rs3213282
XRCC1
0.882 0.160 19 43568728 intron variant G/C snv 0.57 3
rs3810378
XRCC1 ; PINLYP
1.000 0.120 19 43577449 intron variant G/C snv 0.29 3