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: rs587780537
rs587780537
CDH1
5 0.925 0.080 16 68810224 missense variant G/A snv 0.700 1.000 12 2006 2019
dbSNP: rs587783050
rs587783050
CDH1
2 1.000 0.080 16 68812263 splice region variant G/A;T snv 0.700 1.000 11 2006 2016
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: rs587780113
rs587780113
CDH1
2 1.000 0.080 16 68815760 splice donor variant G/A;C;T snv 0.700 1.000 10 2002 2016
dbSNP: rs587780787
rs587780787
CDH1
2 1.000 0.080 16 68828296 stop gained G/T snv 4.0E-06 0.700 1.000 9 2004 2014
dbSNP: rs121964877
rs121964877
CDH1
5 0.851 0.160 16 68822081 stop gained C/G;T snv 0.700 1.000 8 1998 2015
dbSNP: rs1555515596
rs1555515596
CDH1
1 1.000 0.080 16 68811682 splice acceptor variant A/G snv 0.700 1.000 7 2008 2012
dbSNP: rs878854691
rs878854691
CDH1
2 1.000 0.080 16 68737418 start lost G/A snv 0.700 1.000 7 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: rs1064794231
rs1064794231
CDH1
1 1.000 0.080 16 68810240 missense variant A/G snv 7.0E-06 0.700 1.000 5 2007 2015
dbSNP: rs1555509622
rs1555509622
CDH1
1 1.000 0.080 16 68737416 start lost A/G snv 0.700 1.000 5 1990 2017
dbSNP: rs267606712
rs267606712
CDH1
2 1.000 0.080 16 68811859 missense variant G/A;T snv 0.700 1.000 5 1994 2016
dbSNP: rs587776398
rs587776398
CDH1
1 1.000 0.080 16 68812149 stop gained T/C;G snv 3.6E-05 0.700 1.000 5 2010 2018
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: rs1060501244
rs1060501244
CDH1
2 1.000 0.080 16 68828204 missense variant G/A;T snv 8.0E-06 0.700 1.000 4 2004 2015
dbSNP: rs587780784
rs587780784
CDH1
4 1.000 0.080 16 68811854 stop gained C/G;T snv 1.6E-05; 8.0E-06 0.710 1.000 4 2005 2013
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: rs1555518211
rs1555518211
CDH1
2 1.000 0.080 16 68833296 stop gained A/G;T snv 0.700 1.000 3 1999 2013
dbSNP: rs587783047
rs587783047
CDH1
2 1.000 0.080 16 68801693 stop gained C/T snv 0.700 1.000 3 1998 2014
dbSNP: rs746481984
rs746481984
CDH1
5 0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06 0.720 1.000 3 2013 2018
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: rs1060501237
rs1060501237
CDH1
1 1.000 0.080 16 68811861 splice donor variant T/C snv 0.700 1.000 2 2004 2010
dbSNP: rs1131690808
rs1131690808
CDH1
2 1.000 0.080 16 68808568 splice donor variant G/A;T snv 0.700 1.000 2 2004 2010
dbSNP: rs113583899
rs113583899
CDH1
2 1.000 0.080 16 68819279 splice acceptor variant G/C snv 7.0E-06 0.700 1.000 2 2004 2010