Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs2227983
EGFR
0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs1555206402
HMBS
0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs2306283
SLCO1B1
0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs4149117
SLCO1B3-SLCO1B7 ; SLCO1B3
0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs1057910
CYP2C9
0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 12
rs4124874
UGT1A5 ; UGT1A4 ; UGT1A7 ; LOC100286922 ; UGT1A8 ; UGT1A10 ; UGT1A3 ; UGT1A6 ; UGT1A9
0.851 0.120 2 233757013 intron variant T/A;G snv 8
rs752914124
SGSH
0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 8
rs1131692245
NPHS1
0.925 0.160 19 35844109 missense variant C/T snv 7
rs370244148
WNT2B
0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 6
rs1801019
UMPS
0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 4
rs2244613
CES1
0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73 4
rs1042597
UGT1A8
2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 3
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv 3
rs1555909961
TMPRSS15
1.000 0.080 21 18398320 frameshift variant AGTGC/- del 2
rs1360182594
MTHFR
1 11790755 synonymous variant G/A snv 4.0E-06 1