Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060503757
SDHB
0.882 0.080 1 17024024 frameshift variant G/- delins 5
rs747518441
SDHB
1.000 0.080 1 17022723 missense variant C/A;T snv 4.0E-06; 8.0E-06 2
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
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
rs397514565
PIK3CA
0.882 0.240 3 179204576 missense variant G/A snv 3
rs1064793732
PIK3CA
0.882 0.320 3 179204536 missense variant G/A snv 2
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs886037891
EGFR
0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06 7
rs121913465
EGFR ; EGFR-AS1
0.763 0.160 7 55181312 missense variant G/T snv 3
rs397517108
EGFR ; EGFR-AS1
0.790 0.120 7 55181312 missense variant GC/TT mnv 1
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
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 14
rs863224909
PTEN
0.732 0.360 10 87960952 stop gained C/A;G snv 14
rs370795352
PTEN
0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06 13
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
rs1224040268
PTEN
0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 12
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11