Gene: TSC2 ×
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: rs45517259
rs45517259
TSC2
3 0.925 0.120 16 2076142 missense variant G/A snv 0.700 1.000 8 1999 2015
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
3 0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 0.700 1.000 7 1998 2013
dbSNP: rs45469298
rs45469298
TSC2
5 0.851 0.200 16 2070570 missense variant C/G;T snv 0.700 1.000 7 1996 2013
dbSNP: rs28934872
rs28934872
TSC2
5 0.851 0.200 16 2070571 missense variant G/A snv 0.700 1.000 5 1998 2013
dbSNP: rs397514914
rs397514914
TSC2
2 1.000 0.120 16 2071534 missense variant C/T snv 0.700 1.000 4 2010 2017
dbSNP: rs45486196
rs45486196
TSC2
2 1.000 0.120 16 2071924 missense variant G/A snv 0.700 1.000 4 1999 2011
dbSNP: rs45517395
rs45517395
TSC2
4 0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2010 2015
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
4 0.882 0.200 16 2088293 missense variant C/G;T snv 0.700 1.000 4 2005 2013
dbSNP: rs45517099
rs45517099
TSC2
2 1.000 0.120 16 2053384 stop gained C/T snv 0.700 1.000 3 1999 2006
dbSNP: rs137854307
rs137854307
TSC2
1 16 2084640 frameshift variant AG/- delins 0.700 1.000 2 1999 2001
dbSNP: rs397514919
rs397514919
TSC2
1 16 2079326 missense variant T/C;G snv 0.700 1.000 2 2005 2011
dbSNP: rs45451497
rs45451497
TSC2
2 1.000 0.120 16 2080179 stop gained C/T snv 0.700 1.000 2 1999 2001
dbSNP: rs45517182
rs45517182
TSC2
2 1.000 0.120 16 2064428 splice donor variant G/A;T snv 0.700 1.000 2 2007 2011
dbSNP: rs45517248
rs45517248
TSC2
1 16 2075802 missense variant T/C snv 0.700 1.000 2 2007 2015
dbSNP: rs137854028
rs137854028
TSC2
1 16 2084994 frameshift variant G/- del 0.700 1.000 1 2007 2007
dbSNP: rs397515297
rs397515297
TSC2
2 1.000 0.120 16 2064275 stop gained G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs45517183
rs45517183
TSC2
1 16 2064429 splice donor variant T/C snv 0.700 1.000 1 2006 2006
dbSNP: rs1114167459
rs1114167459
TSC2
1 16 2081761 frameshift variant C/- del 0.700 0
dbSNP: rs1114167460
rs1114167460
TSC2
1 16 2088045 splice acceptor variant CA/- del 0.700 0
dbSNP: rs1114167461
rs1114167461
TSC2
1 16 2079157 frameshift variant -/GATACGTC delins 0.700 0
dbSNP: rs1114167462
rs1114167462
TSC2
2 1.000 0.120 16 2062533 stop gained C/T snv 0.700 0
dbSNP: rs1114167463
rs1114167463
TSC2
1 16 2074235 frameshift variant -/AC delins 0.700 0
dbSNP: rs1114167465
rs1114167465
TSC2
1 16 2056746 stop gained G/A;T snv 0.700 0
dbSNP: rs1114167466
rs1114167466
TSC2
1 16 2065517 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1114167468
rs1114167468
PKD1 ; TSC2
1 16 2088225 splice acceptor variant A/G snv 0.700 0