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
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1238684646
DICER1
14 95090640 missense variant C/G snv 4.0E-06 2
rs532480170
C11orf65 ; ATM
0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 5
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs80359030
BRCA2
0.851 13 32363189 stop gained G/A;T snv 4.0E-06 6
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs587779340
PMS2
0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 7
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs121912665
TP53
1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 7
rs121434569
EGFR-AS1 ; EGFR
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs934945
PER2
0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 10
rs1346044
WRN
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 23
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242