Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs118203434
TSC1
0.925 0.120 9 132921367 stop gained G/A snv 3
rs1301051974
TSC1
0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06 3
rs137854218
TSC2 ; PKD1
0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 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
rs1060500931
TSC2
0.925 0.120 16 2064302 stop gained C/T snv 2
rs1064794132
TSC1
1.000 0.120 9 132903649 splice donor variant A/T snv 2
rs1114167462
TSC2
1.000 0.120 16 2062533 stop gained C/T snv 2
rs376285784
TSC2
1.000 0.120 16 2064342 missense variant G/A snv 1.2E-05 2.1E-05 2
rs397514914
TSC2
1.000 0.120 16 2071534 missense variant C/T snv 2
rs397514916
TSC2
0.925 0.120 16 2083754 missense variant C/G;T snv 2
rs45438205
TSC2
0.925 0.120 16 2080365 missense variant C/T snv 7.0E-06 2
rs45483392
TSC2
0.925 0.120 16 2087897 missense variant C/A;T 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
rs45517169
TSC2
0.925 0.120 16 2062982 stop gained C/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
rs1174984399
PIK3CB
1.000 0.120 3 138714505 missense variant G/A snv 4.0E-06 7.0E-06 1
rs137854052
TSC2
1.000 0.120 16 2058765 frameshift variant -/C delins 1
rs137854106
TSC2
1.000 0.120 16 2079357 frameshift variant A/- delins 1
rs137854329
TSC2
1.000 0.120 16 2085238 frameshift variant -/T delins 1
rs138742347
PIK3CD
1.000 0.120 1 9722244 splice region variant C/T snv 5.8E-04 2.5E-03 1
rs1430119276
TSC2
1.000 0.120 16 2079096 missense variant G/T snv 7.0E-06 1