Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1961177
CYP19A1
15 51332881 intron variant C/T snv 0.21 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
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
rs412396 20 43657322 downstream gene variant C/G snv 0.77 2
rs1288422703
APC
5 112767386 missense variant G/A snv 4.0E-06 2
rs1219568637
EGFR
7 55143404 missense variant G/A snv 7.0E-06 2
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv 2
rs4771249
FLT1
13 28439277 intron variant G/A;C snv 2
rs772468040
FLT3
13 28057413 missense variant C/G;T snv 1.2E-05; 4.0E-06 2
rs4725431
PRKAG2
7 151776093 intron variant T/C snv 0.19 2
rs6964824
PRKAG2
7 151654146 intron variant T/C snv 0.31 2
rs56848936
SYMPK
0.776 0.080 19 45818249 intron variant A/G snv 1.9E-02 2
rs112431538
TP53
1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 2
rs587778966
MLH1
0.925 0.160 3 36996698 frameshift variant -/C delins 3
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 3
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 3
rs1441008398
APC
5 112839334 missense variant C/T snv 4.0E-06 4
rs876660427
APC
5 112838608 missense variant C/T snv 4
rs140516819
EGFR
7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04 4
rs35918369
EGFR
7 55205613 missense variant C/T snv 3.1E-04 3.3E-04 4
rs7987649
FLT1
0.925 0.080 13 28320278 intron variant A/G snv 0.35 4
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 6