Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs993614997
TSC2
1.000 0.120 16 2081714 missense variant C/T snv 2.1E-05 1
rs764288120
TSC2
1.000 0.120 16 2061983 missense variant T/C snv 4.0E-06 1
rs754504918
TSC2
1.000 0.120 16 2071816 missense variant G/A snv 1
rs752603642
TSC2
0.925 0.160 16 2072888 missense variant C/T snv 4.0E-06 2
rs45517423
TSC2 ; PKD1
1.000 0.120 16 2088569 missense variant C/T snv 1.5E-03 1.5E-03 1
rs45517382
TSC2
0.925 0.120 16 2086834 missense variant A/G snv 2
rs45517308
TSC2
0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06 2
rs45517305
TSC2
0.851 0.240 16 2081646 stop gained C/A;T snv 5
rs45517278
TSC2
1.000 0.120 16 2079090 missense variant G/T snv 1
rs45517259
TSC2
0.925 0.120 16 2076142 missense variant G/A snv 3
rs45517258
TSC2
0.925 0.120 16 2076141 missense variant C/G;T snv 2
rs45517234
TSC2
0.925 0.160 16 2074251 stop gained C/T snv 2
rs45517201
TSC2
1.000 0.120 16 2070531 missense variant T/C snv 1
rs45517169
TSC2
0.925 0.120 16 2062982 stop gained C/T snv 2
rs45517115
TSC2
1.000 0.120 16 2055518 stop gained C/T snv 1
rs45516293
TSC2
0.925 0.120 16 2084965 missense variant A/C;G snv 2
rs45514100
TSC2
0.925 0.160 16 2079093 stop gained C/G;T snv 4.0E-06 2
rs45509500
TSC2
1.000 0.120 16 2072923 synonymous variant C/G;T snv 4.0E-06; 5.6E-05 1
rs45507199
TSC2 ; PKD1
0.925 0.120 16 2088294 missense variant G/A;C;T snv 3
rs45488500
TSC2
1.000 0.120 16 2054441 splice donor variant G/T snv 1
rs45487497
TSC2
0.925 0.120 16 2058779 missense variant G/A snv 2
rs45483392
TSC2
0.925 0.120 16 2087897 missense variant C/A;T snv 2
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv 5
rs45460895
TSC2
1.000 0.120 16 2055520 splice donor variant G/A snv 1
rs45438205
TSC2
0.925 0.120 16 2080365 missense variant C/T snv 7.0E-06 2