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: rs118203631
rs118203631
TSC1
4 0.851 0.200 9 132903785 stop gained G/A snv 0.700 1.000 9 1997 2017
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
3 0.925 0.120 16 2088294 missense variant G/A;C;T snv 0.700 1.000 9 1998 2016
dbSNP: rs45517258
rs45517258
TSC2
2 0.925 0.120 16 2076141 missense variant C/G;T snv 0.700 1.000 9 1998 2015
dbSNP: rs118203434
rs118203434
TSC1
3 0.925 0.120 9 132921367 stop gained G/A snv 0.700 1.000 5 1998 2017
dbSNP: rs45516293
rs45516293
TSC2
2 0.925 0.120 16 2084965 missense variant A/C;G snv 0.700 1.000 4 2001 2013
dbSNP: rs45517308
rs45517308
TSC2
2 0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06 0.700 1.000 4 2001 2017
dbSNP: rs137854052
rs137854052
TSC2
1 1.000 0.120 16 2058765 frameshift variant -/C delins 0.700 1.000 2 2001 2001
dbSNP: rs137854106
rs137854106
TSC2
1 1.000 0.120 16 2079357 frameshift variant A/- delins 0.700 1.000 2 2001 2001
dbSNP: rs1567533189
rs1567533189
TSC2
2 0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 0.700 1.000 1 2019 2019
dbSNP: rs45517115
rs45517115
TSC2
1 1.000 0.120 16 2055518 stop gained C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs45517201
rs45517201
TSC2
1 1.000 0.120 16 2070531 missense variant T/C snv 0.700 1.000 1 2008 2008
dbSNP: rs1064794132
rs1064794132
TSC1
2 1.000 0.120 9 132903649 splice donor variant A/T snv 0.700 0
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
3 0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 0.700 0
dbSNP: rs137854329
rs137854329
TSC2
1 1.000 0.120 16 2085238 frameshift variant -/T delins 0.700 0
dbSNP: rs1554815914
rs1554815914
TSC1
1 1.000 0.120 9 132905874 frameshift variant TCCCGCA/GC delins 0.700 0
dbSNP: rs45460895
rs45460895
TSC2
1 1.000 0.120 16 2055520 splice donor variant G/A snv 0.700 0
dbSNP: rs45483392
rs45483392
TSC2
2 0.925 0.120 16 2087897 missense variant C/A;T snv 0.700 0
dbSNP: rs45488500
rs45488500
TSC2
1 1.000 0.120 16 2054441 splice donor variant G/T snv 0.700 0
dbSNP: rs45517169
rs45517169
TSC2
2 0.925 0.120 16 2062982 stop gained C/T snv 0.700 0
dbSNP: rs45517382
rs45517382
TSC2
2 0.925 0.120 16 2086834 missense variant A/G snv 0.700 0
dbSNP: rs61752115
rs61752115
PEX13
7 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
dbSNP: rs1060500931
rs1060500931
TSC2
2 0.925 0.120 16 2064302 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1114167462
rs1114167462
TSC2
2 1.000 0.120 16 2062533 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs1174984399
rs1174984399
PIK3CB
1 1.000 0.120 3 138714505 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017