Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17280262 14 96587587 upstream gene variant C/T snv 5.1E-02 1
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs121912665
TP53
1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 7
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv 28
rs112431538
TP53
1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 4
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 6
rs4812219 20 60847915 intergenic variant C/T snv 0.13 1
rs730881913
PMS2
7 6004023 missense variant C/T snv 4.0E-06 1
rs779512948
PMS2
7 5989800 missense variant C/G;T snv 4.0E-06 1
rs864622553
PMS2
7 5987540 missense variant C/G snv 1.2E-05 1.4E-05 1
rs1064793236
PMS2
7 5986802 missense variant C/T snv 7.0E-06 1
rs587780053
PMS2
7 5977698 missense variant C/T snv 8.0E-06 1.4E-05 1
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv 4
rs35918369
EGFR
7 55205613 missense variant C/T snv 3.1E-04 3.3E-04 4
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs140516819
EGFR
7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04 4
rs1219568637
EGFR
7 55143404 missense variant G/A snv 7.0E-06 2
rs1961177
CYP19A1
15 51332881 intron variant C/T snv 0.21 1
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36 18
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv 25
rs768824654
MSH2
1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 6
rs56848936
SYMPK
0.776 0.080 19 45818249 intron variant A/G snv 1.9E-02 11
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82