Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 3
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs863224909
PTEN
0.732 0.360 10 87960952 stop gained C/A;G snv 14
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 14
rs370795352
PTEN
0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06 13
rs1224040268
PTEN
0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 12
rs121909222
PTEN
0.742 0.240 10 87933127 missense variant A/G snv 7
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 1
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv 2
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 12
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv 3
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv 11