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: rs137854312
rs137854312
TSC2
1 1.000 0.120 16 2084661 frameshift variant -/A delins 0.700 1.000 1 2006 2006
dbSNP: rs137854359
rs137854359
TSC2
1 1.000 0.120 16 2055488 stop gained -/A delins 0.700 1.000 1 1999 1999
dbSNP: rs1567408314
rs1567408314
TSC2
1 1.000 0.120 16 2056677 stop gained -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs397515009
rs397515009
TSC2
1 1.000 0.120 16 2084368 frameshift variant -/AGCAAGTCCAGCTCCTC delins 0.700 1.000 1 2011 2011
dbSNP: rs137854020
rs137854020
TSC2
1 1.000 0.120 16 2057160 frameshift variant -/C delins 0.700 0
dbSNP: rs1555503131
rs1555503131
TSC2
1 1.000 0.120 16 2065525 frameshift variant -/C delins 0.700 0
dbSNP: rs1567457100
rs1567457100
TSC2
1 1.000 0.120 16 2070480 frameshift variant -/CACGC delins 0.700 0
dbSNP: rs137854046
rs137854046
TSC2
1 1.000 0.120 16 2084591 frameshift variant -/G delins 0.700 1.000 1 2011 2011
dbSNP: rs796053505
rs796053505
TSC2
1 1.000 0.120 16 2081780 frameshift variant -/T delins 0.700 1.000 2 2011 2018
dbSNP: rs137854210
rs137854210
TSC2
1 1.000 0.120 16 2081679 frameshift variant -/T delins 0.700 1.000 1 2006 2006
dbSNP: rs1555500535
rs1555500535
TSC2
1 1.000 0.120 16 2060740 frameshift variant -/T delins 0.700 0
dbSNP: rs878854075
rs878854075
TSC2
1 1.000 0.120 16 2061910 frameshift variant -/T delins 0.700 0
dbSNP: rs137854337
rs137854337
TSC2
1 1.000 0.120 16 2071892 frameshift variant -/TACT delins 0.700 0
dbSNP: rs1555514034
rs1555514034
TSC2
1 1.000 0.120 16 2084355 stop gained -/TCGCAGCCCCTGAGCAAGTCCAGCTC delins 0.700 0
dbSNP: rs1567409292
rs1567409292
TSC2
1 1.000 0.120 16 2056759 frameshift variant -/TT delins 0.700 0
dbSNP: rs137854251
rs137854251
PKD1 ; TSC2
1 1.000 0.120 16 2088227 frameshift variant A/- del 0.700 0
dbSNP: rs1567437492
rs1567437492
TSC2
1 1.000 0.120 16 2064330 frameshift variant A/- del 0.700 0
dbSNP: rs397515023
rs397515023
TSC2
1 1.000 0.120 16 2084693 frameshift variant A/-;AA delins 0.700 1.000 1 2011 2011
dbSNP: rs45517229
rs45517229
TSC2
1 1.000 0.120 16 2074198 splice acceptor variant A/C snv 0.700 1.000 2 1999 2005
dbSNP: rs45517418
rs45517418
PKD1 ; TSC2
1 1.000 0.120 16 2088504 missense variant A/C;G snv 8.0E-06 0.700 1.000 20 1996 2017
dbSNP: rs45487291
rs45487291
TSC2
1 1.000 0.120 16 2088046 splice acceptor variant A/C;G snv 0.700 1.000 4 1999 2007
dbSNP: rs45502196
rs45502196
TSC2
1 1.000 0.120 16 2072847 splice acceptor variant A/C;G snv 0.700 1.000 4 1999 2017
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: rs794727602
rs794727602
TSC2
1 1.000 0.120 16 2086801 missense variant A/C;G snv 0.700 0
dbSNP: rs45517382
rs45517382
TSC2
2 0.925 0.120 16 2086834 missense variant A/G snv 0.800 1.000 26 1996 2017