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: rs118203436
rs118203436
TSC1
1 1.000 0.120 9 132921363 missense variant C/G;T snv 0.800 1.000 8 2009 2017
dbSNP: rs75820036
rs75820036
TSC1
1 1.000 0.120 9 132905618 stop gained G/A;C;T snv 8.5E-04; 4.0E-06 0.800 1.000 6 1998 2017
dbSNP: rs118203345
rs118203345
TSC1
1 1.000 0.120 9 132927229 missense variant A/C;G snv 0.800 1.000 5 2013 2017
dbSNP: rs118203396
rs118203396
TSC1
1 1.000 0.120 9 132921943 missense variant A/G snv 0.800 1.000 5 2013 2017
dbSNP: rs118203426
rs118203426
TSC1
1 1.000 0.120 9 132921429 missense variant A/C;T snv 0.800 1.000 1 2013 2013
dbSNP: rs397514800
rs397514800
TSC1
1 1.000 0.120 9 132903782 missense variant C/G snv 4.0E-06 2.1E-05 0.700 1.000 13 1997 2017
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: rs397514840
rs397514840
TSC1
1 1.000 0.120 9 132910603 missense variant G/A;T snv 4.0E-06 0.700 1.000 13 1997 2017
dbSNP: rs77464996
rs77464996
TSC1
1 1.000 0.120 9 132910584 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 13 1997 2017
dbSNP: rs118203631
rs118203631
TSC1
4 0.851 0.200 9 132903785 stop gained G/A snv 0.700 1.000 10 1997 2015
dbSNP: rs118203403
rs118203403
TSC1
1 1.000 0.120 9 132921910 missense variant A/C;G;T snv 0.700 1.000 9 1997 2013
dbSNP: rs118203538
rs118203538
TSC1
1 1.000 0.120 9 132906079 missense variant C/T snv 0.700 1.000 9 1997 2013
dbSNP: rs118203639
rs118203639
TSC1
1 1.000 0.120 9 132903756 missense variant C/A snv 0.700 1.000 9 1997 2013
dbSNP: rs118203655
rs118203655
TSC1
1 1.000 0.120 9 132903682 missense variant G/T snv 0.700 1.000 9 1997 2013
dbSNP: rs118203682
rs118203682
TSC1
5 0.882 0.160 9 132902640 stop gained G/A snv 0.700 1.000 9 1997 2006
dbSNP: rs397514784
rs397514784
TSC1
1 1.000 0.120 9 132923461 missense variant C/G;T snv 4.0E-06 0.700 1.000 9 1997 2013
dbSNP: rs397514802
rs397514802
TSC1
1 1.000 0.120 9 132903766 missense variant A/C snv 0.700 1.000 9 1997 2013
dbSNP: rs397514843
rs397514843
TSC1
1 1.000 0.120 9 132923480 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 9 1997 2013
dbSNP: rs118203542
rs118203542
TSC1
4 0.851 0.200 9 132906053 stop gained G/A snv 0.700 1.000 8 1997 2015
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: rs397514808
rs397514808
TSC1
1 1.000 0.120 9 132911475 missense variant C/T snv 8.0E-06 2.8E-05 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: rs397514864
rs397514864
TSC1
1 1.000 0.120 9 132911059 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 8 1997 2012
dbSNP: rs118203427
rs118203427
TSC1
3 0.882 0.200 9 132921418 stop gained G/A snv 0.700 1.000 6 1998 2005
dbSNP: rs118203342
rs118203342
TSC1
1 1.000 0.120 9 132927258 missense variant T/G snv 4.0E-06 7.0E-06 0.700 1.000 5 2013 2017