Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv 13
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 13
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv 11
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv 10
rs1049074086
CTSD
0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 9
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 9
rs917411291
GZMM
0.851 0.360 19 544072 start lost A/C;G snv 9
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 8
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv 7
rs917570055
GZMM
0.882 0.360 19 547342 start lost A/G snv 7
rs768824654
MSH2
1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 6
rs121913484
FGFR3
0.851 0.240 4 1804365 missense variant A/T snv 5
rs35690297
PMS2
1.000 0.120 7 6002584 start lost T/A;C snv 5
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv 5
rs771306418
CAMK1 ; OGG1
0.851 0.120 3 9765885 splice acceptor variant -/C delins 5
rs786202724
MET
0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 5
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
rs267607906
MLH1
1.000 0.160 3 37050576 stop gained A/C;G;T snv 4
rs863224683
TP53
17 7675224 missense variant G/A;C snv 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
rs876658923
EPM2AIP1 ; MLH1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 3