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: rs118203490
rs118203490
TSC1
1 1.000 0.120 9 132911103 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs45512692
rs45512692
NTHL1 ; TSC2
1 1.000 0.120 16 2048649 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs397515020
rs397515020
NTHL1 ; TSC2
1 1.000 0.120 16 2048658 frameshift variant T/-;TT delins 0.700 1.000 1 2006 2006
dbSNP: rs137854360
rs137854360
NTHL1 ; TSC2
1 1.000 0.120 16 2048747 frameshift variant CTGA/- delins 0.700 0
dbSNP: rs137854117
rs137854117
NTHL1 ; TSC2
1 1.000 0.120 16 2048750 splice donor variant AGAG/-;AG delins 0.700 0
dbSNP: rs1567386603
rs1567386603
TSC2
1 1.000 0.120 16 2050399 splice acceptor variant G/A snv 0.700 1.000 3 1999 2014
dbSNP: rs1567387207
rs1567387207
TSC2
3 0.882 0.200 16 2050487 splice donor variant G/A snv 0.700 0
dbSNP: rs45517096
rs45517096
TSC2
1 1.000 0.120 16 2053340 splice acceptor variant A/G snv 0.700 1.000 1 2007 2007
dbSNP: rs1567394860
rs1567394860
TSC2
1 1.000 0.120 16 2053362 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs45517099
rs45517099
TSC2
2 1.000 0.120 16 2053384 stop gained C/T snv 0.700 1.000 7 1999 2010
dbSNP: rs45517102
rs45517102
TSC2
1 1.000 0.120 16 2053453 splice donor variant G/A;C snv 0.700 1.000 3 1999 2007
dbSNP: rs45517105
rs45517105
TSC2
1 1.000 0.120 16 2054295 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs1567398983
rs1567398983
TSC2
1 1.000 0.120 16 2054304 frameshift variant T/- delins 0.700 0
dbSNP: rs1131691602
rs1131691602
TSC2
1 1.000 0.120 16 2054317 stop gained A/T snv 0.700 0
dbSNP: rs45517107
rs45517107
TSC2
1 1.000 0.120 16 2054369 missense variant A/G snv 0.700 0
dbSNP: rs1060500924
rs1060500924
TSC2
1 1.000 0.120 16 2054380 stop gained G/T snv 0.700 0
dbSNP: rs1555497690
rs1555497690
TSC2
1 1.000 0.120 16 2054399 missense variant C/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1555497714
rs1555497714
TSC2
1 1.000 0.120 16 2054434 stop gained G/T snv 0.700 0
dbSNP: rs137854122
rs137854122
TSC2
1 1.000 0.120 16 2055407 frameshift variant TT/- delins 0.700 0
dbSNP: rs137854359
rs137854359
TSC2
1 1.000 0.120 16 2055488 stop gained -/A delins 0.700 1.000 1 1999 1999
dbSNP: rs45517117
rs45517117
TSC2
1 1.000 0.120 16 2056195 splice acceptor variant G/A snv 0.700 1.000 4 1999 2007
dbSNP: rs45517118
rs45517118
TSC2
1 1.000 0.120 16 2056242 stop gained G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs45488893
rs45488893
TSC2
1 1.000 0.120 16 2056245 splice donor variant G/A snv 0.700 1.000 1 2005 2005
dbSNP: rs794727906
rs794727906
TSC2
1 1.000 0.120 16 2056643 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs45517119
rs45517119
TSC2
1 1.000 0.120 16 2056653 stop gained C/G;T snv 0.700 1.000 1 2011 2011