Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs138742347
PIK3CD
1.000 0.120 1 9722244 splice region variant C/T snv 5.8E-04 2.5E-03 1
rs148838884
PIK3CD
1.000 0.120 1 9722067 synonymous variant C/T snv 4.4E-05 5.6E-05 1
rs61752115
PEX13
0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 7
rs1174984399
PIK3CB
1.000 0.120 3 138714505 missense variant G/A snv 4.0E-06 7.0E-06 1
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs118203542
TSC1
0.851 0.200 9 132906053 stop gained G/A snv 4
rs118203631
TSC1
0.851 0.200 9 132903785 stop gained G/A snv 4
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
rs1064794132
TSC1
1.000 0.120 9 132903649 splice donor variant A/T snv 2
rs118203673
TSC1
0.925 0.160 9 132902703 stop gained G/A snv 2
rs1554815914
TSC1
1.000 0.120 9 132905874 frameshift variant TCCCGCA/GC delins 1
rs185159716
TSC1
1.000 0.120 9 132906751 missense variant A/G snv 4.0E-06 7.0E-06 1
rs537585211
TSC1
1.000 0.120 9 132897194 missense variant C/A snv 2.0E-05 7.7E-05 1
rs865808591
TSC1
1.000 0.120 9 132904435 missense variant A/G snv 1
rs28934872
TSC2
0.851 0.200 16 2070571 missense variant G/A snv 5
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv 5
rs45517305
TSC2
0.851 0.240 16 2081646 stop gained C/A;T snv 5
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
rs1114167462
TSC2
1.000 0.120 16 2062533 stop gained C/T snv 2
rs1567533189
TSC2
0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 2