Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 4
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06 3
rs397507482
BRAF
0.882 0.040 7 140753386 missense variant A/C snv 3
rs794729219
BRAF
0.882 0.240 7 140753352 missense variant A/G snv 3
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv 2
rs121913337
BRAF
0.925 0.200 7 140753353 missense variant A/C;T snv 2
rs121913349
BRAF
0.925 0.200 7 140781618 missense variant C/G;T snv 2
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv 2
rs121913376
BRAF
0.925 0.080 7 140781597 missense variant C/A;T snv 2
rs121913225
BRAF
1.000 0.040 7 140753351 missense variant A/G snv 1
rs121913226
BRAF
1.000 0.040 7 140753332 inframe deletion TTT/- del 1
rs121913363
BRAF
1.000 0.040 7 140753361 missense variant T/C snv 1
rs121913372
BRAF
1.000 0.040 7 140753321 missense variant CT/AA mnv 1
rs121913373
BRAF
1.000 0.040 7 140753321 missense variant C/T snv 1
rs1639679
BRAF
1.000 0.040 7 140778454 intron variant G/T snv 9.8E-02 1
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 8
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 8
rs886040456
BRCA2
0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 6
rs1799944
BRCA2
0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02 5
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv 5
rs10492396
BRCA2
0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02 2
rs206118
BRCA2
0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv 2
rs759851035
BRCA2
1.000 0.040 13 32394766 missense variant G/A snv 4.0E-06 1
rs80359204
BRCA2
1.000 0.040 13 32394741 missense variant A/G snv 1