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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2003 2012
dbSNP: rs1564698850
rs1564698850
SUFU
2 0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 0.700 0
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2003 2012
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs387906238
rs387906238
APC
2 0.925 0.120 5 112819224 frameshift variant AA/- del 0.010 1.000 1 2007 2007
dbSNP: rs1060501108
rs1060501108
SUFU
2 0.925 0.160 10 102549993 frameshift variant G/- del 0.700 0
dbSNP: rs863224925
rs863224925
ACTR1A ; SUFU
1 1.000 0.040 10 102504263 frameshift variant C/- del 0.700 0
dbSNP: rs1057517558
rs1057517558
APC
3 0.882 0.120 5 112839549 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs1554852279
rs1554852279
SUFU
2 0.925 0.160 10 102592711 frameshift variant -/TA delins 0.700 1.000 1 2012 2012
dbSNP: rs1477199832
rs1477199832
SUFU
2 0.925 0.160 10 102597223 frameshift variant -/C delins 0.700 0
dbSNP: rs1554840869
rs1554840869
ACTR1A ; SUFU
2 0.925 0.160 10 102504322 frameshift variant -/C delins 0.700 0
dbSNP: rs1564032829
rs1564032829
PTCH1 ; LOC100507346
2 0.925 0.160 9 95468757 frameshift variant T/- delins 0.700 0
dbSNP: rs56126236
rs56126236
PTCH2
2 0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 0.700 0
dbSNP: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.810 1.000 5 2000 2016
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.800 1.000 3 2000 2016
dbSNP: rs587776578
rs587776578
SUFU
3 0.882 0.160 10 102599545 splice donor variant G/A;C snv 0.700 1.000 3 2011 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2003 2012
dbSNP: rs1554841447
rs1554841447
SUFU
2 0.925 0.160 10 102509168 splice acceptor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1564676479
rs1564676479
SUFU
2 0.925 0.160 10 102550107 splice donor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs17710891
rs17710891
SMO
2 0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 0.700 1.000 2 2009 2012
dbSNP: rs28931588
rs28931588
CTNNB1
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.700 1.000 2 2014 2016
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.020 1.000 2 2010 2011
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016