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: rs1342376116
rs1342376116
ARID1A
1 1 26696438 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1431341935
rs1431341935
SORD
1 15 45023318 frameshift variant -/G delins 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs121909144
rs121909144
KLF6
1 10 3781852 missense variant G/A;T snv 0.700 0
dbSNP: rs1057519836
rs1057519836
CTNNB1
2 3 41224630 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1440200916
rs1440200916
PDGFRA
2 4 54258803 missense variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121908382
rs121908382
MUTYH
2 1.000 0.080 1 45331530 missense variant G/A snv 0.700 0
dbSNP: rs121908383
rs121908383
MUTYH
2 1.000 0.080 1 45331502 missense variant T/C snv 0.700 0
dbSNP: rs121909775
rs121909775
CASP10
2 1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121909776
rs121909776
CASP10
2 1.000 0.080 2 201187798 missense variant T/C snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs121912469
rs121912469
IRF1
2 1.000 0.080 5 132489457 missense variant T/A snv 0.700 0
dbSNP: rs137854571
rs137854571
APC
2 1.000 0.120 5 112838793 stop gained C/T snv 0.700 0
dbSNP: rs149633775
rs149633775
TP53
2 1.000 0.120 17 7673773 missense variant G/A;C;T snv 7.2E-05; 4.0E-06 0.700 0
dbSNP: rs1553125914
rs1553125914
MUTYH
2 1.000 0.120 1 45331512 frameshift variant -/TC delins 0.700 0
dbSNP: rs28933379
rs28933379
APC
2 1.000 0.080 5 112838953 missense variant G/A snv 0.700 0
dbSNP: rs587776802
rs587776802
PIK3CA
2 1.000 0.080 3 179234358 frameshift variant -/A delins 0.700 0
dbSNP: rs1057519803
rs1057519803
ERBB3
4 0.925 0.080 12 56088138 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1452231640
rs1452231640
POLB
4 1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121918505
rs121918505
FGFR2
5 0.851 0.080 10 121520119 missense variant A/G snv 0.700 0
dbSNP: rs140342925
rs140342925
MUTYH
5 0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05 0.700 0
dbSNP: rs1554085355
rs1554085355
APC
5 0.851 0.120 5 112839461 stop gained T/A snv 0.700 0
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
5 0.925 0.080 17 39724744 missense variant G/A snv 0.700 0
dbSNP: rs372267274
rs372267274
MUTYH
5 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs587780088
rs587780088
MUTYH
5 0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs587781628
rs587781628
MUTYH
5 0.882 0.120 1 45331558 splice acceptor variant T/C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs1057519891
rs1057519891
ERBB3
6 0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2015 2015