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: rs1555505211
rs1555505211
TSC2
1 1.000 0.120 16 2070580 splice donor variant T/C snv 0.700 0
dbSNP: rs397515170
rs397515170
TSC2
1 1.000 0.120 16 2088141 splice donor variant T/C snv 0.700 0
dbSNP: rs45438192
rs45438192
TSC2
1 1.000 0.120 16 2079145 missense variant T/C snv 0.700 0
dbSNP: rs45517239
rs45517239
TSC2
1 1.000 0.120 16 2074321 missense variant T/C snv 0.700 0
dbSNP: rs45474691
rs45474691
TSC2
1 1.000 0.120 16 2088089 missense variant T/A;G snv 4.0E-06; 2.0E-05 0.700 1.000 4 2013 2017
dbSNP: rs1555514984
rs1555514984
TSC2
1 1.000 0.120 16 2085028 splice donor variant T/A;G snv 0.700 1.000 3 1999 2011
dbSNP: rs45517214
rs45517214
TSC2
1 1.000 0.120 16 2072293 missense variant T/A;G snv 0.800 0
dbSNP: rs45499191
rs45499191
TSC2
1 1.000 0.120 16 2072934 missense variant T/A snv 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: rs1555501373
rs1555501373
TSC2
1 1.000 0.120 16 2062521 frameshift variant T/- del 0.700 0
dbSNP: rs1555508938
rs1555508938
TSC2
1 1.000 0.120 16 2076517 frameshift variant T/- delins 0.700 0
dbSNP: rs1567398983
rs1567398983
TSC2
1 1.000 0.120 16 2054304 frameshift variant T/- delins 0.700 0
dbSNP: rs1555512486
rs1555512486
TSC2
1 1.000 0.120 16 2081730 frameshift variant GT/- delins 0.700 0
dbSNP: rs137854302
rs137854302
TSC2
1 1.000 0.120 16 2079399 frameshift variant GGG/-;GG;GGGG delins 0.700 1.000 2 2007 2011
dbSNP: rs1567521369
rs1567521369
TSC2
1 1.000 0.120 16 2084326 frameshift variant GGCCC/- delins 0.700 0
dbSNP: rs137854397
rs137854397
PKD1 ; TSC2
1 1.000 0.120 16 2088312 splice donor variant GCCAGCGGGTAGGGAATATGGGGCTCC/- delins 0.700 1.000 3 2001 2014
dbSNP: rs1555439847
rs1555439847
TSC2
1 1.000 0.120 16 2087937 stop gained GA/TT mnv 0.700 0
dbSNP: rs397515082
rs397515082
TSC2
1 1.000 0.120 16 2062587 frameshift variant GA/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1555505103
rs1555505103
TSC2
1 1.000 0.120 16 2070501 frameshift variant GA/- delins 0.700 0
dbSNP: rs45517327
rs45517327
TSC2
1 1.000 0.120 16 2084318 stop gained G/T snv 0.700 1.000 1 2001 2001
dbSNP: rs1060500924
rs1060500924
TSC2
1 1.000 0.120 16 2054380 stop gained G/T snv 0.700 0
dbSNP: rs1555497714
rs1555497714
TSC2
1 1.000 0.120 16 2054434 stop gained G/T snv 0.700 0
dbSNP: rs1555502518
rs1555502518
TSC2
1 1.000 0.120 16 2064377 stop gained G/T snv 0.700 0
dbSNP: rs1555511585
rs1555511585
TSC2
1 1.000 0.120 16 2080353 stop gained G/T snv 0.700 0
dbSNP: rs397515257
rs397515257
TSC2
1 1.000 0.120 16 2063054 splice donor variant G/T snv 0.700 0