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: rs971882211
rs971882211
CDH1
1 1.000 0.080 16 68823404 stop gained G/C;T snv 4.0E-06 2.1E-05 0.700 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: rs886041161
rs886041161
CDH1
2 1.000 0.080 16 68819426 splice donor variant G/A;C snv 0.700 1.000 3 2003 2010
dbSNP: rs886037822
rs886037822
CDH1
1 1.000 0.080 16 68813392 frameshift variant C/- delins 0.700 1.000 2 2015 2016
dbSNP: rs878854697
rs878854697
CDH1
2 1.000 0.080 16 68810342 splice donor variant G/A;T snv 0.700 1.000 5 2004 2015
dbSNP: rs878854691
rs878854691
CDH1
2 1.000 0.080 16 68737418 start lost G/A snv 0.700 1.000 7 1990 2017
dbSNP: rs878854690
rs878854690
CDH1
1 1.000 0.080 16 68801862 frameshift variant -/G delins 0.700 0
dbSNP: rs876661107
rs876661107
CDH1
1 1.000 0.080 16 68808504 stop gained G/A snv 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
dbSNP: rs876660771
rs876660771
CDH1
2 1.000 0.080 16 68812264 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 11 1999 2018
dbSNP: rs876660393
rs876660393
CDH1
2 1.000 0.080 16 68829652 splice acceptor variant A/G snv 0.700 1.000 2 2004 2010
dbSNP: rs876659716
rs876659716
CDH1
2 1.000 0.080 16 68819283 stop gained T/A;C snv 8.0E-06 0.700 0
dbSNP: rs876659503
rs876659503
CDH1
1 1.000 0.080 16 68810302 stop gained G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs876659446
rs876659446
CDH1
2 1.000 0.080 16 68812263 splice donor variant G/- delins 0.700 0
dbSNP: rs876659384
rs876659384
TP53
7 0.851 0.240 17 7673552 stop gained C/A snv 0.010 1.000 1 2004 2004
dbSNP: rs876659208
rs876659208
CDH1
2 1.000 0.080 16 68815666 frameshift variant AG/- delins 0.700 1.000 2 2004 2012
dbSNP: rs876658944
rs876658944
CDH1
1 1.000 0.080 16 68828274 stop gained T/A;C snv 0.700 1.000 1 2015 2015
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: rs876658865
rs876658865
CDH1
2 1.000 0.080 16 68738372 frameshift variant CCC/T delins 0.700 1.000 1 2019 2019
dbSNP: rs876658575
rs876658575
CDH1
2 1.000 0.080 16 68828302 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs876658261
rs876658261
CDH1
2 1.000 0.080 16 68815681 frameshift variant CGAGGAC/- delins 0.700 1.000 1 1999 1999
dbSNP: rs876658146
rs876658146
CDH1
3 0.882 0.200 16 68815743 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs864622655
rs864622655
CDH1
1 1.000 0.080 16 68808536 frameshift variant A/- delins 0.700 0
dbSNP: rs786203752
rs786203752
CDH1
2 1.000 0.080 16 68829785 frameshift variant T/- delins 0.700 1.000 2 2013 2015
dbSNP: rs786203576
rs786203576
CDH1
2 1.000 0.080 16 68738308 stop gained G/A snv 0.700 1.000 2 1999 2018