Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854218
TSC2 ; PKD1
0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 3
rs1567489890
TSC2
1.000 0.120 16 2077476 non coding transcript exon variant G/A snv 3
rs45507199
TSC2 ; PKD1
0.925 0.120 16 2088294 missense variant G/A;C;T snv 3
rs45517259
TSC2
0.925 0.120 16 2076142 missense variant G/A snv 3
rs773920155
TSC2
0.925 0.120 16 2061946 stop gained G/A;T snv 4.0E-06 3
rs1060500931
TSC2
0.925 0.120 16 2064302 stop gained C/T snv 2
rs397514916
TSC2
0.925 0.120 16 2083754 missense variant C/G;T snv 2
rs397515297
TSC2
1.000 0.120 16 2064275 stop gained G/A;T snv 2
rs45438205
TSC2
0.925 0.120 16 2080365 missense variant C/T snv 7.0E-06 2
rs45451497
TSC2
1.000 0.120 16 2080179 stop gained C/T snv 2
rs45483392
TSC2
0.925 0.120 16 2087897 missense variant C/A;T snv 2
rs45486196
TSC2
1.000 0.120 16 2071924 missense variant G/A snv 2
rs45487497
TSC2
0.925 0.120 16 2058779 missense variant G/A snv 2
rs45516293
TSC2
0.925 0.120 16 2084965 missense variant A/C;G snv 2
rs45517099
TSC2
1.000 0.120 16 2053384 stop gained C/T snv 2
rs45517169
TSC2
0.925 0.120 16 2062982 stop gained C/T snv 2
rs45517182
TSC2
1.000 0.120 16 2064428 splice donor variant G/A;T snv 2
rs45517258
TSC2
0.925 0.120 16 2076141 missense variant C/G;T snv 2
rs45517308
TSC2
0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06 2
rs45517382
TSC2
0.925 0.120 16 2086834 missense variant A/G snv 2
rs1057521562
TSC2
1.000 0.120 16 2063058 splice region variant G/A;C snv 1
rs1060499647
TSC2
1.000 0.120 16 2064410 frameshift variant C/- del 1
rs1060499676
TSC2 ; PKD1
1.000 0.120 16 2088234 stop gained C/G snv 1
rs1060500914
TSC2
1.000 0.120 16 2076087 frameshift variant TCTG/- delins 1
rs1060500924
TSC2
1.000 0.120 16 2054380 stop gained G/T snv 1