Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs28897689
BRCA1
1.000 0.200 17 43091492 stop gained T/A;C snv 3.8E-03 4.1E-03 2
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 31
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs116373169
PMS2
7 6002607 stop gained G/A;T snv 5.1E-04 1.7E-03 1
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 13
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs367543046
FH
1.000 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03 2
rs760146707
RAD50
1.000 0.200 5 132579997 frameshift variant T/- del 4.1E-04 2
rs77542170
MUTYH
1.000 0.120 1 45332088 splice acceptor variant T/C snv 1.1E-03 3.6E-04 2
rs142763740
CHEK2
1.000 0.080 22 28694066 missense variant G/A;C;T snv 3.3E-04 3.1E-04 2
rs148690585
RAD51D ; RAD51L3-RFFL
1.000 17 35118548 stop gained G/A;T snv 1.1E-04 2.7E-04 2
rs587780078
MUTYH
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04 4
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 16
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 15
rs104886456
FANCC
0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04 3
rs587781722
C11orf65 ; ATM
0.925 0.280 11 108310305 stop gained C/T snv 3.2E-05 2.0E-04 3
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs147187700
C11orf65 ; ATM
0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04 3
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 8
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 13