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: rs1057521562
rs1057521562
TSC2
1 1.000 0.120 16 2063058 splice region variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1060499647
rs1060499647
TSC2
1 1.000 0.120 16 2064410 frameshift variant C/- del 0.700 0
dbSNP: rs1060499676
rs1060499676
PKD1 ; TSC2
1 1.000 0.120 16 2088234 stop gained C/G snv 0.700 0
dbSNP: rs1060500914
rs1060500914
TSC2
1 1.000 0.120 16 2076087 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs1060500924
rs1060500924
TSC2
1 1.000 0.120 16 2054380 stop gained G/T snv 0.700 0
dbSNP: rs1060500931
rs1060500931
TSC2
2 0.925 0.120 16 2064302 stop gained C/T snv 0.700 0
dbSNP: rs1060500934
rs1060500934
TSC2
1 1.000 0.120 16 2071845 frameshift variant C/- delins 0.700 0
dbSNP: rs1060500938
rs1060500938
TSC2
1 1.000 0.120 16 2074383 frameshift variant CT/- del 0.700 0
dbSNP: rs1060500950
rs1060500950
TSC2
1 1.000 0.120 16 2086833 frameshift variant AATGACT/- del 0.700 0
dbSNP: rs1060500972
rs1060500972
TSC2
1 1.000 0.120 16 2085027 splice donor variant G/A;T snv 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: rs1064796970
rs1064796970
TSC2
1 1.000 0.120 16 2086818 missense variant G/A snv 0.700 0
dbSNP: rs1131691602
rs1131691602
TSC2
1 1.000 0.120 16 2054317 stop gained A/T snv 0.700 0
dbSNP: rs1131691965
rs1131691965
TSC2
3 0.882 0.200 16 2074394 splice region variant G/C snv 0.700 0
dbSNP: rs118203490
rs118203490
TSC1
1 1.000 0.120 9 132911103 stop gained C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1202939879
rs1202939879
TSC2
1 1.000 0.120 16 2080325 stop gained T/C;G snv 4.0E-06 0.700 0
dbSNP: rs121964862
rs121964862
TSC2
1 1.000 0.120 16 2063042 stop gained C/T snv 0.700 0
dbSNP: rs137853977
rs137853977
TSC2
1 1.000 0.120 16 2057156 frameshift variant AT/- del 0.700 1.000 2 1999 1999
dbSNP: rs137853983
rs137853983
TSC2
1 1.000 0.120 16 2062520 inframe deletion CCT/- delins 0.700 1.000 3 2007 2013
dbSNP: rs137853995
rs137853995
TSC2
1 1.000 0.120 16 2074254 missense variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs137854001
rs137854001
TSC2
1 1.000 0.120 16 2081771 frameshift variant C/- delins 0.700 1.000 1 2011 2011
dbSNP: rs137854018
rs137854018
TSC2
1 1.000 0.120 16 2079581 frameshift variant CA/- delins 0.700 0
dbSNP: rs137854020
rs137854020
TSC2
1 1.000 0.120 16 2057160 frameshift variant -/C 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: rs137854076
rs137854076
TSC2
1 1.000 0.120 16 2079348 frameshift variant TG/- delins 0.700 1.000 1 2002 2002