Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060500931
rs1060500931
TSC2
2 0.925 0.120 16 2064302 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1064794132
rs1064794132
TSC1
2 1.000 0.120 9 132903649 splice donor variant A/T snv 0.700 0
dbSNP: rs1114167462
rs1114167462
TSC2
2 1.000 0.120 16 2062533 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs1174984399
rs1174984399
PIK3CB
1 1.000 0.120 3 138714505 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs118203434
rs118203434
TSC1
3 0.925 0.120 9 132921367 stop gained G/A snv 0.700 1.000 5 1998 2017
dbSNP: rs118203542
rs118203542
TSC1
4 0.851 0.200 9 132906053 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs118203631
rs118203631
TSC1
4 0.851 0.200 9 132903785 stop gained G/A snv 0.700 1.000 9 1997 2017
dbSNP: rs118203673
rs118203673
TSC1
2 0.925 0.160 9 132902703 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2017 2017
dbSNP: rs1301051974
rs1301051974
TSC1
3 0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs137854052
rs137854052
TSC2
1 1.000 0.120 16 2058765 frameshift variant -/C delins 0.700 1.000 2 2001 2001
dbSNP: rs137854106
rs137854106
TSC2
1 1.000 0.120 16 2079357 frameshift variant A/- delins 0.700 1.000 2 2001 2001
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
3 0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 0.700 0
dbSNP: rs137854329
rs137854329
TSC2
1 1.000 0.120 16 2085238 frameshift variant -/T delins 0.700 0
dbSNP: rs138742347
rs138742347
PIK3CD
1 1.000 0.120 1 9722244 splice region variant C/T snv 5.8E-04 2.5E-03 0.010 1.000 1 2017 2017
dbSNP: rs1430119276
rs1430119276
TSC2
1 1.000 0.120 16 2079096 missense variant G/T snv 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1459518095
rs1459518095
TSC2
1 1.000 0.120 16 2084552 missense variant C/G;T snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs148838884
rs148838884
PIK3CD
1 1.000 0.120 1 9722067 synonymous variant C/T snv 4.4E-05 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs1554815914
rs1554815914
TSC1
1 1.000 0.120 9 132905874 frameshift variant TCCCGCA/GC delins 0.700 0
dbSNP: rs1567533189
rs1567533189
TSC2
2 0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 0.700 1.000 1 2019 2019
dbSNP: rs185159716
rs185159716
TSC1
1 1.000 0.120 9 132906751 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs28934872
rs28934872
TSC2
5 0.851 0.200 16 2070571 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs376285784
rs376285784
TSC2
2 1.000 0.120 16 2064342 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs397514914
rs397514914
TSC2
2 1.000 0.120 16 2071534 missense variant C/T snv 0.010 1.000 1 2017 2017