Gene: TSC2 ×
Source: BEFREE ×
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
1 0.925 0.120 16 2064302 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1114167462
rs1114167462
TSC2
1 1.000 0.120 16 2062533 stop gained C/T snv 0.010 1.000 1 2012 2012
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: rs28934872
rs28934872
TSC2
1 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
1 1.000 0.120 16 2071534 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs397514916
rs397514916
TSC2
1 0.925 0.120 16 2083754 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs397515225
rs397515225
TSC2
1 1.000 0.120 16 2080366 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs45438205
rs45438205
TSC2
1 0.925 0.120 16 2080365 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs45469298
rs45469298
TSC2
1 0.851 0.200 16 2070570 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs45487497
rs45487497
TSC2
1 0.925 0.120 16 2058779 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs45509500
rs45509500
TSC2
1 1.000 0.120 16 2072923 synonymous variant C/G;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs45514100
rs45514100
TSC2
2 0.925 0.160 16 2079093 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs45517234
rs45517234
TSC2
2 0.925 0.160 16 2074251 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs45517259
rs45517259
TSC2
1 0.925 0.120 16 2076142 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs45517278
rs45517278
TSC2
1 1.000 0.120 16 2079090 missense variant G/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs45517305
rs45517305
TSC2
4 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs45517423
rs45517423
PKD1 ; TSC2
1 1.000 0.120 16 2088569 missense variant C/T snv 1.5E-03 1.5E-03 0.010 1.000 1 2008 2008
dbSNP: rs752603642
rs752603642
TSC2
2 0.925 0.160 16 2072888 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs754504918
rs754504918
TSC2
1 1.000 0.120 16 2071816 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs764288120
rs764288120
TSC2
1 1.000 0.120 16 2061983 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs993614997
rs993614997
TSC2
1 1.000 0.120 16 2081714 missense variant C/T snv 2.1E-05 0.010 1.000 1 2012 2012