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: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.800 0.971 34 2009 2019
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.800 1.000 20 2010 2018
dbSNP: rs13361707
rs13361707
PRKAA1
7 0.882 0.120 5 40791782 intron variant C/T snv 0.31 0.780 1.000 11 2011 2018
dbSNP: rs10074991
rs10074991
PRKAA1
7 0.851 0.120 5 40790449 intron variant G/A snv 0.31 0.720 1.000 3 2014 2018
dbSNP: rs9841504
rs9841504
ZBTB20
7 0.827 0.120 3 114643917 intron variant C/G;T snv 0.720 0.667 3 2011 2016
dbSNP: rs746481984
rs746481984
CDH1
5 0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06 0.720 1.000 2 2016 2018
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 4 1987 2004
dbSNP: rs3781264
rs3781264
PLCE1
5 0.851 0.120 10 94310618 intron variant A/G snv 0.25 0.710 1.000 2 2010 2012
dbSNP: rs104894361
rs104894361
KRAS
3 0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 3 1987 2003
dbSNP: rs121908382
rs121908382
MUTYH
2 1.000 0.080 1 45331530 missense variant G/A snv 0.700 1.000 3 2004 2015
dbSNP: rs121908383
rs121908383
MUTYH
2 1.000 0.080 1 45331502 missense variant T/C snv 0.700 1.000 3 2004 2015
dbSNP: rs121912469
rs121912469
IRF1
2 1.000 0.080 5 132489457 missense variant T/A snv 0.700 1.000 3 1998 2014
dbSNP: rs121913528
rs121913528
KRAS
12 0.851 0.160 12 25227349 missense variant C/A;T snv 0.700 1.000 3 1987 2003
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 1.000 3 1987 2003
dbSNP: rs121909776
rs121909776
CASP10
2 1.000 0.080 2 201187798 missense variant T/C snv 1.2E-04 2.8E-05 0.700 1.000 2 2002 2014
dbSNP: rs121912470
rs121912470
IRF1
2 0.925 0.120 5 132489448 missense variant A/G snv 0.700 1.000 2 1998 1999
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
5 0.925 0.080 17 39724744 missense variant G/A snv 0.700 1.000 2 2004 2007
dbSNP: rs760077
rs760077
MTX1 ; THBS3
8 0.925 0.120 1 155208991 missense variant T/A snv 0.36 0.700 1.000 2 2015 2020
dbSNP: rs10029005
rs10029005
LINC02516
1 1.000 0.080 4 124530209 intron variant G/A snv 0.40 0.700 1.000 1 2020 2020
dbSNP: rs10509671
rs10509671
PLCE1
1 1.000 0.080 10 94309297 intron variant T/G snv 0.24 0.700 1.000 1 2020 2020
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs1108143
rs1108143 		1 1.000 0.080 2 234557214 regulatory region variant A/G snv 8.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs140081212
rs140081212
GBAP1
2 0.925 0.080 1 155215184 non coding transcript exon variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs2285947
rs2285947
DNAH11
7 0.807 0.120 7 21544470 intron variant G/A snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs2294693
rs2294693
OARD1 ; UNC5CL
3 1.000 0.080 6 41037763 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016