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: rs104894360
rs104894360
KRAS
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs141787524
rs141787524
MAP3K6
1 1.000 0.080 1 27358259 missense variant G/A;T snv 5.0E-03 4.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs919875624
rs919875624
DSG2 ; DSG2-AS1
1 1.000 0.080 18 31546199 missense variant C/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs63750447
rs63750447
MLH1
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs1555509622
rs1555509622
CDH1
1 1.000 0.080 16 68737416 start lost A/G snv 0.700 1.000 5 1990 2017
dbSNP: rs1555509623
rs1555509623
CDH1
2 1.000 0.080 16 68737417 start lost T/C;G snv 0.700 1.000 6 1990 2017
dbSNP: rs878854691
rs878854691
CDH1
2 1.000 0.080 16 68737418 start lost G/A snv 0.700 1.000 7 1990 2017
dbSNP: rs1555509636
rs1555509636
CDH1
1 1.000 0.080 16 68737427 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs749591910
rs749591910
CDH1
1 1.000 0.080 16 68737463 missense variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1440280370
rs1440280370
CDH1
1 1.000 0.080 16 68737464 splice donor variant G/A;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1060501226
rs1060501226
CDH1
1 1.000 0.080 16 68738295 splice acceptor variant A/G snv 0.700 1.000 3 1999 2007
dbSNP: rs121964875
rs121964875
CDH1
1 1.000 0.080 16 68738307 stop gained G/A snv 0.700 1.000 3 1999 2015
dbSNP: rs786203576
rs786203576
CDH1
2 1.000 0.080 16 68738308 stop gained G/A snv 0.700 1.000 2 1999 2018
dbSNP: rs121964876
rs121964876
CDH1
1 1.000 0.080 16 68738318 stop gained G/T snv 0.700 1.000 2 1999 2000
dbSNP: rs786201058
rs786201058
CDH1
2 1.000 0.080 16 68738324 stop gained G/C;T snv 0.700 0
dbSNP: rs876658865
rs876658865
CDH1
2 1.000 0.080 16 68738372 frameshift variant CCC/T delins 0.700 1.000 1 2019 2019
dbSNP: rs587783047
rs587783047
CDH1
2 1.000 0.080 16 68801693 stop gained C/T snv 0.700 1.000 3 1998 2014
dbSNP: rs786202151
rs786202151
CDH1
2 1.000 0.080 16 68801708 frameshift variant T/- del 0.700 0
dbSNP: rs1555514406
rs1555514406
CDH1
1 1.000 0.080 16 68801709 frameshift variant -/T delins 0.700 0
dbSNP: rs876658932
rs876658932
CDH1
7 0.807 0.400 16 68801726 stop gained C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1555514429
rs1555514429
CDH1
1 1.000 0.080 16 68801766 frameshift variant G/- delins 0.700 1.000 2 2004 2010
dbSNP: rs781409616
rs781409616
CDH1
1 1.000 0.080 16 68801789 stop gained C/T snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1555514464
rs1555514464
CDH1
2 1.000 0.080 16 68801814 stop gained G/A snv 0.700 0
dbSNP: rs1064795703
rs1064795703
CDH1
1 1.000 0.080 16 68801820 frameshift variant C/- delins 0.700 0
dbSNP: rs876661106
rs876661106
CDH1
1 1.000 0.080 16 68801843 stop gained A/G;T snv 4.0E-06 0.700 0