Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121964875
rs121964875
CDH1
1.000 0.080 16 68738307 stop gained G/A snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 3 1999 2015
dbSNP: rs1555518211
rs1555518211
CDH1
1.000 0.080 16 68833296 stop gained A/G;T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 3 1999 2013
dbSNP: rs587783047
rs587783047
CDH1
1.000 0.080 16 68801693 stop gained C/T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 3 1998 2014
dbSNP: rs886041161
rs886041161
CDH1
1.000 0.080 16 68819426 splice donor variant G/A;C snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 3 2003 2010
dbSNP: rs1060501215
rs1060501215
CDH1
1.000 0.080 16 68801878 frameshift variant C/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 1999 2007
dbSNP: rs1060501237
rs1060501237
CDH1
1.000 0.080 16 68811861 splice donor variant T/C snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2010
dbSNP: rs1131690808
rs1131690808
CDH1
1.000 0.080 16 68808568 splice donor variant G/A;T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2010
dbSNP: rs113583899
rs113583899
CDH1
1.000 0.080 16 68819279 splice acceptor variant G/C snv 7.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2010
dbSNP: rs121964876
rs121964876
CDH1
1.000 0.080 16 68738318 stop gained G/T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 1999 2000
dbSNP: rs1385720097
rs1385720097
CDH1
1.000 0.080 16 68828173 splice acceptor variant G/C;T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2010
dbSNP: rs1440280370
rs1440280370
CDH1
1.000 0.080 16 68737464 splice donor variant G/A;T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2011 2014
dbSNP: rs1555514429
rs1555514429
CDH1
1.000 0.080 16 68801766 frameshift variant G/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2010
dbSNP: rs1555517680
rs1555517680
CDH1
1.000 0.080 16 68828284 frameshift variant G/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2005 2011
dbSNP: rs1567504977
rs1567504977
CDH1
1.000 0.080 16 68808849 splice donor variant G/A snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2010
dbSNP: rs1567506511
rs1567506511
CDH1
1.000 0.080 16 68811672 splice acceptor variant TCTTCCAGGAAC/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2010
dbSNP: rs35572355
rs35572355
CDH1
1.000 0.080 16 68833344 missense variant G/A;C snv 1.7E-04; 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 1999 2002
dbSNP: rs771085839
rs771085839
CDH1
1.000 0.080 16 68808692 splice acceptor variant G/C snv 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2010
dbSNP: rs786203576
rs786203576
CDH1
1.000 0.080 16 68738308 stop gained G/A snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 1999 2018
dbSNP: rs786203752
rs786203752
CDH1
1.000 0.080 16 68829785 frameshift variant T/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2013 2015
dbSNP: rs876659208
rs876659208
CDH1
1.000 0.080 16 68815666 frameshift variant AG/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2012
dbSNP: rs876660393
rs876660393
CDH1
1.000 0.080 16 68829652 splice acceptor variant A/G snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2004 2010
dbSNP: rs886037822
rs886037822
CDH1
1.000 0.080 16 68813392 frameshift variant C/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 2015 2016
dbSNP: rs1060501224
rs1060501224
CDH1
1.000 0.080 16 68822180 frameshift variant AC/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 1 2015 2015
dbSNP: rs1131690815
rs1131690815
CDH1
1.000 0.080 16 68808483 frameshift variant CAGAAGA/-;CAGAAGACAGAAGA delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 1 2015 2015
dbSNP: rs1375617541
rs1375617541
CDH1
1.000 0.080 16 68829739 frameshift variant -/C delins 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 1 1998 1998