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: rs45517138
rs45517138
TSC2
1 1.000 0.120 16 2058773 missense variant T/C snv 0.700 1.000 16 1996 2005
dbSNP: rs45517147
rs45517147
TSC2
1 1.000 0.120 16 2060776 missense variant T/C snv 0.700 1.000 16 1996 2005
dbSNP: rs45517153
rs45517153
TSC2
1 1.000 0.120 16 2060687 missense variant C/A;T snv 1.6E-05 0.700 1.000 16 1996 2005
dbSNP: rs45517156
rs45517156
TSC2
1 1.000 0.120 16 2061970 missense variant T/G snv 0.700 1.000 16 1996 2005
dbSNP: rs45517202
rs45517202
TSC2
1 1.000 0.120 16 2070535 missense variant A/G;T snv 4.0E-06 0.700 1.000 16 1996 2005
dbSNP: rs45517236
rs45517236
TSC2
1 1.000 0.120 16 2074291 missense variant C/T snv 0.700 1.000 16 1996 2005
dbSNP: rs45517238
rs45517238
TSC2
1 1.000 0.120 16 2074320 missense variant C/A snv 6.8E-04 7.2E-04 0.700 1.000 16 1996 2005
dbSNP: rs45517355
rs45517355
TSC2
1 1.000 0.120 16 2085306 missense variant A/G snv 0.700 1.000 16 1996 2005
dbSNP: rs45517380
rs45517380
TSC2
1 1.000 0.120 16 2086810 missense variant A/G;T snv 0.700 1.000 16 1996 2005
dbSNP: rs45517381
rs45517381
TSC2
1 1.000 0.120 16 2086811 missense variant C/G;T snv 7.3E-05 0.700 1.000 16 1996 2005
dbSNP: rs45517383
rs45517383
TSC2
1 1.000 0.120 16 2086840 missense variant C/T snv 0.700 1.000 16 1996 2005
dbSNP: rs45517413
rs45517413
PKD1 ; TSC2
1 1.000 0.120 16 2088297 missense variant T/C snv 0.700 1.000 16 1996 2005
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: rs45517169
rs45517169
TSC2
2 0.925 0.120 16 2062982 stop gained C/T snv 0.700 1.000 9 1999 2017
dbSNP: rs45517099
rs45517099
TSC2
2 1.000 0.120 16 2053384 stop gained C/T snv 0.700 1.000 7 1999 2010
dbSNP: rs137854175
rs137854175
TSC2
1 1.000 0.120 16 2084998 frameshift variant ACAA/- delins 0.700 1.000 6 1997 2011
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: 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: rs1064792923
rs1064792923
PKD1 ; TSC2
1 1.000 0.120 16 2088461 frameshift variant TCCAACCCCAGCCTAC/- delins 0.700 1.000 5 1997 2015
dbSNP: rs45517150
rs45517150
TSC2
1 1.000 0.120 16 2060655 intron variant G/A snv 0.700 1.000 5 1999 2015
dbSNP: rs45517411
rs45517411
PKD1 ; TSC2
1 1.000 0.120 16 2088286 stop gained G/A;T snv 0.700 1.000 5 1997 2015
dbSNP: rs137854128
rs137854128
TSC2
1 1.000 0.120 16 2074295 inframe deletion TCA/- delins 0.700 1.000 4 2005 2011
dbSNP: rs137854261
rs137854261
TSC2
1 1.000 0.120 16 2086791 inframe deletion AAG/- delins 0.700 1.000 4 2007 2013
dbSNP: rs137854331
rs137854331
TSC2
1 1.000 0.120 16 2086369 inframe deletion CAT/- delins 0.700 1.000 4 1998 2013