Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1015362 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 1
rs1015363 1.000 0.040 20 34150529 intergenic variant G/A snv 0.69 1
rs10816595 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 1
rs2127675 1.000 0.040 6 32883073 upstream gene variant A/G snv 0.36 1
rs5759167 0.851 0.160 22 43104206 TF binding site variant G/T snv 0.40 1
rs6673928 1.000 0.040 1 206763900 downstream gene variant G/T snv 0.20 1
rs6695772 1.000 0.040 1 212708597 intergenic variant C/G snv 0.58 1
rs1351212535
ABCA1
1.000 0.040 9 104831015 missense variant T/A snv 4.0E-06 1
rs10231520
ABCB5
1.000 0.040 7 20742471 intron variant C/T snv 0.29 1
rs17817117
ABCB5
1.000 0.040 7 20685203 intron variant G/C snv 0.29 1
rs2301641
ABCB5
1.000 0.040 7 20658647 missense variant A/G snv 0.33 0.40 1
rs749499406
ACD
1.000 0.040 16 67658771 missense variant C/T snv 4.0E-06 1
rs1800522
AIRE
1.000 0.040 21 44297667 synonymous variant T/C snv 1
rs1057519804
AKT1
1.000 0.040 14 104776711 missense variant G/T snv 1
rs397514644
AKT1
0.925 0.040 14 104780190 missense variant G/A snv 7.0E-06 1
rs137854567
APC
0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 1
rs1231071385
ATF2
1.000 0.040 2 175093177 frameshift variant -/G ins 1
rs1281363680
ATR
1.000 0.040 3 142566228 missense variant T/C snv 7.0E-06 1
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv 1
rs121913341
BRAF
0.851 0.280 7 140753350 missense variant A/C;T snv 1
rs121913376
BRAF
0.925 0.080 7 140781597 missense variant C/A;T snv 1
rs1639679
BRAF
1.000 0.040 7 140778454 intron variant G/T snv 9.8E-02 1
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 1
rs794729219
BRAF
0.882 0.240 7 140753352 missense variant A/G snv 1
rs759851035
BRCA2
1.000 0.040 13 32394766 missense variant G/A snv 4.0E-06 1