Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs768824654
MSH2
1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 6
rs35690297
PMS2
1.000 0.120 7 6002584 start lost T/A;C snv 5
rs773647920
MLH1
1.000 0.120 3 37001037 start lost A/G snv 2.4E-04 3.5E-05 5
rs786202567
PMS2
1.000 0.120 7 5992027 missense variant T/A;C snv 4.0E-06 1.4E-05 5
rs267607906
MLH1
1.000 0.160 3 37050576 stop gained A/C;G;T snv 4
rs876658923
EPM2AIP1 ; MLH1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 3
rs121913480
FGFR3
1.000 0.120 4 1806604 missense variant G/T snv 2
rs1383461329
KMT5A
1.000 0.120 12 123389469 missense variant C/T snv 1.4E-05 2
rs1049074086
CTSD
0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 9
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 8
rs368094521
MIR4728 ; ERBB2
0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04 5
rs786202724
MET
0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 5
rs6886
CAPG
0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 4
rs121434265
LOC101929160 ; CDC73
0.925 0.080 1 193125142 stop gained C/G snv 3
rs121913245
MET
0.925 0.120 7 116783420 missense variant T/C snv 3
rs1400966919
FGFR4
0.925 0.240 5 177096737 missense variant G/A snv 1.4E-05 3
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 9
rs917570055
GZMM
0.882 0.360 19 547342 start lost A/G snv 7
rs188957694
ESR1
0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05 6
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv 4
rs121913671
MET
0.882 0.160 7 116783353 missense variant G/A;C snv 4
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 9
rs917411291
GZMM
0.851 0.360 19 544072 start lost A/C;G snv 9
rs267607911
MSH2
0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 8