Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs895520
NPAS2
0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
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
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 35
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs1444669684
CDKN2B-AS1 ; CDKN2A
0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs934945
PER2
0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 10
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs121913238
KRAS
0.732 0.240 12 25227343 missense variant G/C;T snv 17
rs267606985
PTHLH
1.000 12 27963693 missense variant A/G snv 3
rs1555927374
CHEK2
22 28725346 stop gained C/T snv 1
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs886040738
BRCA2
0.851 13 32363188 frameshift variant G/- delins 7
rs80359030
BRCA2
0.851 13 32363189 stop gained G/A;T snv 4.0E-06 6
rs267607845
MLH1
0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 5
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
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 27