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: rs28934872
rs28934872
TSC2
5 0.851 0.200 16 2070571 missense variant G/A snv 0.800 1.000 25 1996 2016
dbSNP: rs45469298
rs45469298
TSC2
5 0.851 0.200 16 2070570 missense variant C/G;T snv 0.800 1.000 16 1996 2017
dbSNP: rs45517305
rs45517305
TSC2
5 0.851 0.240 16 2081646 stop gained C/A;T snv 0.700 1.000 1 1998 1998
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
4 0.882 0.200 16 2088293 missense variant C/G;T snv 0.700 1.000 11 1998 2016
dbSNP: rs45517179
rs45517179
TSC2
3 0.882 0.200 16 2064341 stop gained C/G;T snv 0.700 1.000 6 1996 2006
dbSNP: rs45517395
rs45517395
TSC2
4 0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 0.700 1.000 6 2007 2017
dbSNP: rs45517222
rs45517222
TSC2
3 0.882 0.200 16 2072879 stop gained C/T snv 0.700 1.000 4 1999 2014
dbSNP: rs1131691965
rs1131691965
TSC2
3 0.882 0.200 16 2074394 splice region variant G/C snv 0.700 0
dbSNP: rs1567387207
rs1567387207
TSC2
3 0.882 0.200 16 2050487 splice donor variant G/A snv 0.700 0
dbSNP: rs1567437155
rs1567437155
TSC2
3 0.882 0.200 16 2064286 frameshift variant C/- del 0.700 0
dbSNP: rs45517258
rs45517258
TSC2
2 0.925 0.120 16 2076141 missense variant C/G;T snv 0.800 1.000 29 1996 2017
dbSNP: rs45517259
rs45517259
TSC2
3 0.925 0.120 16 2076142 missense variant G/A snv 0.800 1.000 27 1996 2017
dbSNP: rs45517382
rs45517382
TSC2
2 0.925 0.120 16 2086834 missense variant A/G snv 0.800 1.000 26 1996 2017
dbSNP: rs45483392
rs45483392
TSC2
2 0.925 0.120 16 2087897 missense variant C/A;T snv 0.800 1.000 24 1996 2017
dbSNP: rs397514916
rs397514916
TSC2
2 0.925 0.120 16 2083754 missense variant C/G;T snv 0.700 1.000 16 1996 2005
dbSNP: rs45487497
rs45487497
TSC2
2 0.925 0.120 16 2058779 missense variant G/A snv 0.700 1.000 16 1996 2005
dbSNP: rs45438205
rs45438205
TSC2
2 0.925 0.120 16 2080365 missense variant C/T snv 7.0E-06 0.800 1.000 13 1996 2017
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
3 0.925 0.120 16 2088294 missense variant G/A;C;T snv 0.800 1.000 13 1998 2017
dbSNP: rs45517169
rs45517169
TSC2
2 0.925 0.120 16 2062982 stop gained C/T snv 0.700 1.000 9 1999 2017
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
3 0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 0.700 1.000 6 1998 2013
dbSNP: rs45516293
rs45516293
TSC2
2 0.925 0.120 16 2084965 missense variant A/C;G snv 0.700 1.000 3 2001 2013
dbSNP: rs45517308
rs45517308
TSC2
2 0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06 0.700 1.000 2 2001 2011
dbSNP: rs1060500931
rs1060500931
TSC2
2 0.925 0.120 16 2064302 stop gained C/T snv 0.700 0
dbSNP: rs773920155
rs773920155
TSC2
3 0.925 0.120 16 2061946 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs137854882
rs137854882
TSC2
1 1.000 0.120 16 2087941 missense variant G/A;C;T snv 0.800 1.000 20 1996 2017