Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854052
TSC2
1.000 0.120 16 2058765 frameshift variant -/C delins 1
rs137854329
TSC2
1.000 0.120 16 2085238 frameshift variant -/T delins 1
rs137854106
TSC2
1.000 0.120 16 2079357 frameshift variant A/- delins 1
rs45516293
TSC2
0.925 0.120 16 2084965 missense variant A/C;G snv 2
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs1301051974
TSC1
0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06 3
rs45517382
TSC2
0.925 0.120 16 2086834 missense variant A/G snv 2
rs185159716
TSC1
1.000 0.120 9 132906751 missense variant A/G snv 4.0E-06 7.0E-06 1
rs865808591
TSC1
1.000 0.120 9 132904435 missense variant A/G snv 1
rs1064794132
TSC1
1.000 0.120 9 132903649 splice donor variant A/T snv 2
rs1567533189
TSC2
0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 2
rs537585211
TSC1
1.000 0.120 9 132897194 missense variant C/A snv 2.0E-05 7.7E-05 1
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
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
rs397514916
TSC2
0.925 0.120 16 2083754 missense variant C/G;T snv 2
rs45514100
TSC2
0.925 0.160 16 2079093 stop gained C/G;T snv 4.0E-06 2
rs45517258
TSC2
0.925 0.120 16 2076141 missense variant C/G;T snv 2
rs1459518095
TSC2
1.000 0.120 16 2084552 missense variant C/G;T snv 4.2E-06 1
rs45509500
TSC2
1.000 0.120 16 2072923 synonymous variant C/G;T snv 4.0E-06; 5.6E-05 1
rs1060500931
TSC2
0.925 0.120 16 2064302 stop gained C/T snv 2
rs1114167462
TSC2
1.000 0.120 16 2062533 stop gained C/T snv 2
rs397514914
TSC2
1.000 0.120 16 2071534 missense variant C/T snv 2
rs45438205
TSC2
0.925 0.120 16 2080365 missense variant C/T snv 7.0E-06 2