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: rs137854141
rs137854141
TSC2
1 1.000 0.120 16 2086815 frameshift variant TT/-;T;TTT delins 0.700 1.000 3 2001 2011
dbSNP: rs137854122
rs137854122
TSC2
1 1.000 0.120 16 2055407 frameshift variant TT/- delins 0.700 0
dbSNP: rs1555508929
rs1555508929
TSC2
1 1.000 0.120 16 2076512 frameshift variant TT/- del 0.700 0
dbSNP: rs1555506201
rs1555506201
TSC2
1 1.000 0.120 16 2071923 frameshift variant TGCT/CG delins 0.700 0
dbSNP: rs137854076
rs137854076
TSC2
1 1.000 0.120 16 2079348 frameshift variant TG/- delins 0.700 1.000 1 2002 2002
dbSNP: rs137854368
rs137854368
TSC2
1 1.000 0.120 16 2084335 frameshift variant TG/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1567533467
rs1567533467
TSC2
1 1.000 0.120 16 2086325 frameshift variant TG/- delins 0.700 1.000 1 2011 2011
dbSNP: rs878854082
rs878854082
TSC2
1 1.000 0.120 16 2074273 frameshift variant TCTGCAGCGTGGAGATGCCTGACATCATCATCA/C delins 0.700 0
dbSNP: rs1060500914
rs1060500914
TSC2
1 1.000 0.120 16 2076087 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs1064792923
rs1064792923
PKD1 ; TSC2
1 1.000 0.120 16 2088461 frameshift variant TCCAACCCCAGCCTAC/- delins 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: rs137854250
rs137854250
TSC2
1 1.000 0.120 16 2072982 splice donor variant TAGG/- delins 0.700 1.000 3 1999 2009
dbSNP: rs45517156
rs45517156
TSC2
1 1.000 0.120 16 2061970 missense variant T/G snv 0.700 1.000 16 1996 2005
dbSNP: rs137854298
rs137854298
TSC2
1 1.000 0.120 16 2061980 missense variant T/G snv 0.700 1.000 1 2013 2013
dbSNP: rs397515152
rs397515152
TSC2
1 1.000 0.120 16 2087943 splice donor variant T/C;G snv 0.700 1.000 2 1999 2007
dbSNP: rs1202939879
rs1202939879
TSC2
1 1.000 0.120 16 2080325 stop gained T/C;G snv 4.0E-06 0.700 0
dbSNP: rs45481199
rs45481199
TSC2
1 1.000 0.120 16 2063007 missense variant T/C;G snv 0.700 0
dbSNP: rs45509697
rs45509697
TSC2
1 1.000 0.120 16 2062010 splice donor variant T/C;G snv 0.700 0
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: rs45517413
rs45517413
PKD1 ; TSC2
1 1.000 0.120 16 2088297 missense variant T/C snv 0.700 1.000 16 1996 2005
dbSNP: rs45517228
rs45517228
TSC2
1 1.000 0.120 16 2072985 splice donor variant T/C snv 4.0E-06 0.700 1.000 3 1999 2008
dbSNP: rs137853995
rs137853995
TSC2
1 1.000 0.120 16 2074254 missense variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1567458244
rs1567458244
TSC2
1 1.000 0.120 16 2070574 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs397515206
rs397515206
TSC2
1 1.000 0.120 16 2062582 missense variant T/C snv 0.700 1.000 1 2013 2013