Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs747518441
SDHB
1.000 0.080 1 17022723 missense variant C/A;T snv 4.0E-06; 8.0E-06 2
rs1060503757
SDHB
0.882 0.080 1 17024024 frameshift variant G/- delins 5
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs1064793732
PIK3CA
0.882 0.320 3 179204536 missense variant G/A snv 2
rs397514565
PIK3CA
0.882 0.240 3 179204576 missense variant G/A snv 3
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 3
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
rs199476086
BMPR1A
0.925 0.120 10 86919316 missense variant C/A;T snv 2
rs1554890324
KLLN ; PTEN
1.000 0.080 10 87864470 start lost A/G snv 1
rs587776671
KLLN ; PTEN
0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins 7
rs121909225
PTEN
0.790 0.160 10 87894049 missense variant T/C;G snv 8
rs869312778
PTEN
1.000 0.080 10 87894063 stop gained G/T snv 1
rs762518389
PTEN
0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 2
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs786203847
PTEN
0.790 0.160 10 87925512 splice acceptor variant G/A;C snv 8
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv 8
rs398123317
PTEN
0.790 0.160 10 87925550 missense variant T/A;C;G snv 8
rs121909226
PTEN
0.790 0.160 10 87925557 missense variant T/C snv 7
rs398123318
PTEN
0.776 0.240 10 87925558 splice region variant AGTA/- delins 9