Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs716274 1.000 0.080 11 103547430 intergenic variant A/G snv 0.51 1
rs439680 1.000 0.080 5 109998341 regulatory region variant C/G snv 3
rs4353229
CASP7
0.807 0.160 10 113729830 3 prime UTR variant T/C snv 0.23 6
rs55985569
MET
0.925 0.080 7 116699588 missense variant G/A;T snv 3.7E-03 3
rs34589476
MET
0.827 0.160 7 116771869 missense variant C/T snv 2.9E-03 3.2E-03 7
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 16
rs1360583020
PXN
1.000 0.080 12 120215202 missense variant G/C snv 4.3E-06 2
rs3134425
CRTAM
1.000 0.080 11 122838470 intron variant T/C snv 0.67 1
rs402710
CLPTM1L
0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs3124599
NOTCH1
0.851 0.080 9 136509318 intron variant G/A snv 0.13 5
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs312599 1.000 0.080 5 143998425 intergenic variant C/T snv 0.33 1
rs1454328441
MUC1
0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 6
rs9308062
TMA16
1.000 0.080 4 163517048 intron variant T/A;C snv 1
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 19
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 26
rs17185553
ADAMTSL1
1.000 0.080 9 17934122 intron variant G/C snv 6.5E-02 1
rs10937405
TP63
0.807 0.080 3 189665394 intron variant C/T snv 0.38 9
rs6790167
TP63
0.827 0.080 3 189869485 intron variant A/G snv 0.53 5
rs577715207
TP63
0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 8
rs1045494
CASP8
0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10 3