Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 6
rs45517412
PKD1 ; TSC2
0.882 0.200 16 2088293 missense variant C/G;T snv 4
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv 4
rs28934872
TSC2
0.851 0.200 16 2070571 missense variant G/A snv 4
rs45517395
TSC2
0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 4
rs773920155
TSC2
0.925 0.120 16 2061946 stop gained G/A;T snv 4.0E-06 3
rs1567489890
TSC2
1.000 0.120 16 2077476 non coding transcript exon variant G/A snv 3
rs45517222
TSC2
0.882 0.200 16 2072879 stop gained C/T snv 3
rs1567387207
TSC2
0.882 0.200 16 2050487 splice donor variant G/A snv 3
rs1567437155
TSC2
0.882 0.200 16 2064286 frameshift variant C/- del 3
rs45517179
TSC2
0.882 0.200 16 2064341 stop gained C/G;T snv 3
rs1131691965
TSC2
0.882 0.200 16 2074394 splice region variant G/C snv 3
rs137854218
TSC2 ; PKD1
0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 3
rs45517403
TSC2
1.000 0.040 16 2088143 missense variant A/C;G snv 2
rs397515297
TSC2
1.000 0.120 16 2064275 stop gained G/A;T snv 2
rs45451497
TSC2
1.000 0.120 16 2080179 stop gained C/T snv 2
rs45517099
TSC2
1.000 0.120 16 2053384 stop gained C/T snv 2
rs45517259
TSC2
0.925 0.120 16 2076142 missense variant G/A snv 2
rs45517182
TSC2
1.000 0.120 16 2064428 splice donor variant G/A;T snv 2
rs45514095
TSC2
0.925 0.160 16 2085323 splice donor variant G/A snv 2
rs45516293
TSC2
0.925 0.120 16 2084965 missense variant A/C;G snv 2
rs45517308
TSC2
0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06 2
rs45483392
TSC2
0.925 0.120 16 2087897 missense variant C/A;T snv 2
rs45517258
TSC2
0.925 0.120 16 2076141 missense variant C/G;T snv 2
rs1567533189
TSC2
0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 2