Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs1057519929
PIK3CA
0.776 0.320 3 179199066 missense variant G/A snv 9
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv 13
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
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs17847577
WRN
0.925 0.120 8 31081132 stop gained C/T snv 1.7E-04 3.2E-04 2
rs397508045
BRCA2
0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 9
rs80358391
BRCA2
0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 10
rs80358435
BRCA2
0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 11
rs80359604
BRCA2
0.763 0.320 13 32329468 frameshift variant GT/- delins 10
rs80358427
BRCA2
0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 10
rs80358557
BRCA2
0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06 10
rs80358638
BRCA2
0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 4
rs397507327
BRCA2
0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 9
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 11
rs80358785
BRCA2
0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 9
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs80358807
BRCA2
0.763 0.280 13 32340146 stop gained C/T snv 9
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 11