Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10931936
CASP8
0.827 0.120 2 201279205 intron variant T/C snv 0.72 2
rs1035142
FLACC1
0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 1
rs13006529
CASP10
0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42 1
rs202247795
ERBB4
1.000 0.040 2 211702102 missense variant C/T snv 1
rs267599192
ERBB4
1.000 0.040 2 211673250 missense variant G/A snv 1
rs267599193
ERBB4
1.000 0.040 2 211713583 missense variant C/T snv 1
rs267599211
CNOT9
0.882 0.080 2 218584683 missense variant C/T snv 1
rs535202189
ERBB4
1.000 0.040 2 211673256 missense variant C/T snv 6.8E-05 1
rs55671017
ERBB4
1.000 0.040 2 211705339 missense variant G/A;T snv 8.0E-06; 6.4E-04 1
rs6431588
ILKAP
0.925 0.040 2 238185147 intron variant T/C;G snv 0.86 0.85 1
rs700635
FLACC1
0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 1
rs776347334
ERBB4
1.000 0.040 2 211430974 missense variant C/T snv 1.2E-05 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 48
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 30
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 14
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 10
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs727505017
RAF1
0.882 0.200 3 12604201 missense variant A/G;T snv 3
rs869312757
BAP1
0.925 0.120 3 52405163 stop gained G/A;C snv 3
rs1057519837
CTNNB1
1.000 0.040 3 41224631 missense variant C/G;T snv 2
rs1057519815
RAF1
1.000 0.040 3 12599696 missense variant C/G snv 1