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: rs118203381
rs118203381
TSC1
1 1.000 0.120 9 132923459 missense variant C/A;T snv 8.0E-06 0.700 1.000 5 2013 2017
dbSNP: rs118203548
rs118203548
TSC1
1 1.000 0.120 9 132906011 missense variant C/G snv 4.8E-05 7.7E-05 0.700 1.000 5 2013 2017
dbSNP: rs118203670
rs118203670
TSC1
1 1.000 0.120 9 132902711 missense variant T/C snv 4.1E-04 0.700 1.000 5 2013 2017
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: 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: rs118203478
rs118203478
TSC1
5 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 1.000 4 1999 2017
dbSNP: rs118203537
rs118203537
TSC1
1 1.000 0.120 9 132906080 stop gained G/A snv 0.700 1.000 4 1999 2015
dbSNP: rs118203353
rs118203353
TSC1
1 1.000 0.120 9 132925740 splice acceptor variant C/A;T snv 0.700 1.000 3 1999 2007
dbSNP: rs118203372
rs118203372
TSC1
1 1.000 0.120 9 132925586 splice donor variant C/A;T snv 0.700 1.000 3 1999 2011
dbSNP: rs118203419
rs118203419
TSC1
1 1.000 0.120 9 132921818 splice donor variant C/T snv 0.700 1.000 3 1999 2011
dbSNP: rs118203423
rs118203423
TSC1
1 1.000 0.120 9 132921437 splice acceptor variant C/G;T snv 0.700 1.000 3 1999 2009
dbSNP: rs118203434
rs118203434
TSC1
3 0.925 0.120 9 132921367 stop gained G/A snv 0.700 1.000 3 1998 2017
dbSNP: rs118203597
rs118203597
TSC1
1 1.000 0.120 9 132905673 frameshift variant GT/- delins 0.700 1.000 3 1997 2011
dbSNP: rs118203603
rs118203603
TSC1
1 1.000 0.120 9 132905618 frameshift variant -/T delins 0.700 1.000 3 2006 2011
dbSNP: rs118203707
rs118203707
TSC1
4 0.925 0.200 9 132900828 frameshift variant TTTG/- delins 0.700 1.000 3 1998 1999
dbSNP: rs1564490210
rs1564490210
TSC1
1 1.000 0.120 9 132912458 splice acceptor variant C/T snv 0.700 1.000 3 1999 2013
dbSNP: rs118203440
rs118203440
TSC1
1 1.000 0.120 9 132912459 splice acceptor variant T/A;C snv 0.700 1.000 2 1999 2007
dbSNP: rs118203550
rs118203550
TSC1
1 1.000 0.120 9 132905997 frameshift variant CT/- del 0.700 1.000 2 1997 1997
dbSNP: rs118203599
rs118203599
TSC1
1 1.000 0.120 9 132905670 frameshift variant CT/- delins 0.700 1.000 2 1997 1998
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: 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: rs1554820976
rs1554820976
TSC1
1 1.000 0.120 9 132928765 splice donor variant A/G snv 0.700 1.000 2 1999 2007
dbSNP: rs1564497308
rs1564497308
TSC1
1 1.000 0.120 9 132921361 splice donor variant A/G snv 0.700 1.000 2 1999 2007
dbSNP: rs397514867
rs397514867
TSC1
1 1.000 0.120 9 132912329 stop gained G/C snv 0.700 1.000 2 2005 2008
dbSNP: rs397514871
rs397514871
TSC1
1 1.000 0.120 9 132897538 stop gained G/A snv 0.700 1.000 2 2005 2010