Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs137854218
TSC2 ; PKD1
0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 3
rs137854329
TSC2
1.000 0.120 16 2085238 frameshift variant -/T delins 1
rs1430119276
TSC2
1.000 0.120 16 2079096 missense variant G/T snv 7.0E-06 1
rs1459518095
TSC2
1.000 0.120 16 2084552 missense variant C/G;T snv 4.2E-06 1
rs1567533189
TSC2
0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 2
rs28934872
TSC2
0.851 0.200 16 2070571 missense variant G/A snv 5
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
rs397515225
TSC2
1.000 0.120 16 2080366 missense variant G/A;C snv 4.0E-06 1
rs45438205
TSC2
0.925 0.120 16 2080365 missense variant C/T snv 7.0E-06 2
rs45460895
TSC2
1.000 0.120 16 2055520 splice donor variant G/A snv 1
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv 5
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
rs45488500
TSC2
1.000 0.120 16 2054441 splice donor variant G/T snv 1
rs45507199
TSC2 ; PKD1
0.925 0.120 16 2088294 missense variant G/A;C;T snv 3
rs45509500
TSC2
1.000 0.120 16 2072923 synonymous variant C/G;T snv 4.0E-06; 5.6E-05 1
rs45514100
TSC2
0.925 0.160 16 2079093 stop gained C/G;T snv 4.0E-06 2
rs45516293
TSC2
0.925 0.120 16 2084965 missense variant A/C;G snv 2
rs45517115
TSC2
1.000 0.120 16 2055518 stop gained C/T snv 1