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: rs397514806
rs397514806
TSC1
1 1.000 0.120 9 132896294 missense variant C/A;G snv 8.0E-06 0.700 1.000 8 1997 2012
dbSNP: rs397514859
rs397514859
TSC1
1 1.000 0.120 9 132897227 missense variant G/C;T snv 1.2E-05 0.700 1.000 8 1997 2012
dbSNP: rs118203732
rs118203732
TSC1
1 1.000 0.120 9 132897520 stop gained G/A snv 0.700 0
dbSNP: rs397514871
rs397514871
TSC1
1 1.000 0.120 9 132897538 stop gained G/A snv 0.700 1.000 2 2005 2010
dbSNP: rs76801599
rs76801599
TSC1
1 1.000 0.120 9 132897540 missense variant G/C snv 5.2E-05 0.700 1.000 5 2013 2017
dbSNP: rs118203728
rs118203728
TSC1
2 1.000 0.120 9 132897544 stop gained G/A snv 0.700 0
dbSNP: rs118203726
rs118203726
TSC1
1 1.000 0.120 9 132897560 frameshift variant CT/- delins 0.700 1.000 1 1997 1997
dbSNP: rs118203724
rs118203724
TSC1
1 1.000 0.120 9 132897564 frameshift variant T/-;TT;TTT delins 0.700 1.000 1 2011 2011
dbSNP: rs118203721
rs118203721
TSC1
1 1.000 0.120 9 132897589 missense variant C/T snv 5.8E-05 1.2E-04 0.700 1.000 5 2013 2017
dbSNP: rs118203717
rs118203717
TSC1
1 1.000 0.120 9 132897612 splice acceptor variant T/A;C;G snv 0.700 1.000 2 1999 2007
dbSNP: rs1564474974
rs1564474974
TSC1
1 1.000 0.120 9 132900774 frameshift variant CAACAGCTGCCTGTTCAAGAAC/- delins 0.700 0
dbSNP: rs118203711
rs118203711
TSC1
1 1.000 0.120 9 132900778 frameshift variant CAAC/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1447417010
rs1447417010
TSC1
1 1.000 0.120 9 132900816 stop gained G/A;C snv 7.0E-06 0.700 1.000 2 2013 2016
dbSNP: rs794727320
rs794727320
TSC1
1 1.000 0.120 9 132900822 frameshift variant CACT/- delins 0.700 1.000 1 2011 2011
dbSNP: rs118203707
rs118203707
TSC1
4 0.925 0.200 9 132900828 frameshift variant TTTG/- delins 0.700 1.000 3 1998 1999
dbSNP: rs118203709
rs118203709
TSC1
1 1.000 0.120 9 132900829 frameshift variant -/T delins 0.700 0
dbSNP: rs118203706
rs118203706
TSC1
1 1.000 0.120 9 132900833 stop gained G/C snv 0.700 1.000 1 1997 1997
dbSNP: rs1564475884
rs1564475884
TSC1
1 1.000 0.120 9 132901603 stop gained G/A;C snv 0.700 0
dbSNP: rs397514814
rs397514814
TSC1
1 1.000 0.120 9 132901660 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 13 1997 2017
dbSNP: rs1060503224
rs1060503224
TSC1
1 1.000 0.120 9 132902604 splice donor variant C/G snv 0.700 0
dbSNP: rs397514862
rs397514862
TSC1
1 1.000 0.120 9 132902607 stop gained G/A;T snv 0.700 0
dbSNP: rs118203685
rs118203685
TSC1
1 1.000 0.120 9 132902634 stop gained C/A snv 0.700 0
dbSNP: rs1554814935
rs1554814935
TSC1
1 1.000 0.120 9 132902635 frameshift variant -/CGGTCATGCTGCAGCTGTCT delins 0.700 0
dbSNP: rs118203682
rs118203682
TSC1
5 0.882 0.160 9 132902640 stop gained G/A snv 0.700 1.000 9 1997 2006
dbSNP: rs118203680
rs118203680
TSC1
1 1.000 0.120 9 132902655 stop gained G/A snv 0.700 0