Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs2292832
MIR149 ; GPC1 ; LOC100130449
0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 32
rs1447295
CASC8
0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs2839698
MRPL23 ; MIR675 ; H19
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs6505162
NSRP1 ; MIR3184 ; MIR423
0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs11896604
ACYP2
0.776 0.200 2 54252062 intron variant C/A;G;T snv 8
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A7
0.807 0.160 2 233682328 missense variant CG/AA mnv 8
rs771314938
UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7
0.807 0.160 2 233682328 frameshift variant CG/- del 8
rs879625015
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8
0.807 0.160 2 233682328 frameshift variant CG/A delins 8
rs63750114
MLH1
0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04 5
rs587778964
MLH1
0.882 0.160 3 37048604 missense variant A/C;T snv 4
rs17224367
MSH2
0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 3
rs63750006
MSH2
0.882 0.160 2 47429920 stop gained C/A;G;T snv 5.5E-04; 4.0E-06 3
rs63750070
MSH2
0.882 0.160 2 47410245 missense variant T/C;G snv 3
rs11479
SCO2 ; TYMP
0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06 2
rs17868323
UGT1A7 ; UGT1A10 ; UGT1A9 ; UGT1A8
0.925 0.160 2 233682324 missense variant T/A;G snv 0.59 2
rs63750228
MSH2
1.000 0.080 2 47429926 missense variant C/A;G snv 4.0E-06 1
rs63751067
MSH2
1.000 0.080 2 47410244 frameshift variant CTAGGACTGTGT/A delins 1
rs876661188
MLH1
1.000 0.080 3 37050573 missense variant C/T snv 1
rs63750447
MLH1
0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 17
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116