Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80358079
BRCA1
0.827 0.200 17 43057147 intron variant C/T snv 6
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06 4
rs80358163
BRCA1
0.882 0.200 17 43104968 intron variant T/C snv 4
rs267607749
MLH1
1.000 0.160 3 37008801 intron variant A/G snv 3
rs730881346
ATM
0.925 0.280 11 108257471 intron variant T/G snv 8.0E-06 7.0E-06 3
rs774925473
ATM ; C11orf65
0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05 3
rs1131691067
NF1
1.000 0.120 17 31203089 intron variant A/G snv 2
rs587781256
LOC112268118 ; RB1
1.000 0.080 13 48380087 intron variant ACTTTTAGTAAAAAATTTTTT/- delins 2
rs1131691066
NF1
17 31201024 intron variant G/A snv 1
rs1131691154
ATM
11 108268026 intron variant A/G;T snv 1
rs267608006
MSH2
2 47478262 intron variant T/A snv 4.0E-06 1
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 34
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 25
rs786201059
TP53
0.701 0.360 17 7673764 stop gained C/A;G;T snv 20
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 15
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 14
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 14
rs863224909
PTEN
0.732 0.360 10 87960952 stop gained C/A;G snv 14
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 13
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 13