Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555927374
CHEK2
22 28725346 stop gained C/T snv 1
rs1238684646
DICER1
14 95090640 missense variant C/G snv 4.0E-06 2
rs267606985
PTHLH
1.000 12 27963693 missense variant A/G snv 3
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins 4
rs532480170
C11orf65 ; ATM
0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 5
rs267607845
MLH1
0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 5
rs80359030
BRCA2
0.851 13 32363189 stop gained G/A;T snv 4.0E-06 6
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins 7
rs587779340
PMS2
0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 7
rs121912665
TP53
1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 7
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs934945
PER2
0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 10
rs1057519861
EGFR ; EGFR-AS1
0.776 0.080 7 55181398 missense variant T/A snv 15
rs121913238
KRAS
0.732 0.240 12 25227343 missense variant G/C;T snv 17
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 19
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 21
rs895520
NPAS2
0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv 23
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 27
rs1801260
CLOCK ; TMEM165
0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 28
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 28
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 34