CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9929218
rs9929218
0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.850 1.000 6 2008 2016
dbSNP: rs1555515445
rs1555515445
1.000 0.160 16 68810269 missense variant G/C;T snv
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2017 2017
dbSNP: rs746481984
rs746481984
0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.720 1.000 3 2013 2018
dbSNP: rs746481984
rs746481984
0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.720 1.000 2 2016 2018
dbSNP: rs587780784
rs587780784
1.000 0.080 16 68811854 stop gained C/G;T snv 1.6E-05; 8.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.710 1.000 4 2005 2013
dbSNP: rs9929218
rs9929218
0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.710 1.000 2 2008 2013
dbSNP: rs9939049
rs9939049
0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.710 1.000 2 2019 2020
dbSNP: rs587780537
rs587780537
0.925 0.080 16 68810224 missense variant G/A snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 12 2006 2019
dbSNP: rs587780784
rs587780784
1.000 0.080 16 68811854 stop gained C/G;T snv 1.6E-05; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 2002 2015
dbSNP: rs587783050
rs587783050
1.000 0.080 16 68812263 splice region variant G/A;T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 11 2006 2016
dbSNP: rs876660771
rs876660771
1.000 0.080 16 68812264 splice donor variant G/A snv 4.0E-06 7.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 11 1999 2018
dbSNP: rs587780113
rs587780113
1.000 0.080 16 68815760 splice donor variant G/A;C;T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 10 2002 2016
dbSNP: rs587783048
rs587783048
1.000 0.080 16 68829753 frameshift variant C/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2001 2016
dbSNP: rs587780787
rs587780787
1.000 0.080 16 68828296 stop gained G/T snv 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 9 2004 2014
dbSNP: rs1064795267
rs1064795267
1.000 0.080 16 68815760 splice donor variant G/- del
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 8 2002 2016
dbSNP: rs121964877
rs121964877
0.851 0.160 16 68822081 stop gained C/G;T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 8 1998 2015
dbSNP: rs121964877
rs121964877
0.851 0.160 16 68822081 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1998 2012
dbSNP: rs587783050
rs587783050
1.000 0.080 16 68812263 splice region variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2006 2016
dbSNP: rs1555515596
rs1555515596
1.000 0.080 16 68811682 splice acceptor variant A/G snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 7 2008 2012
dbSNP: rs587780537
rs587780537
0.925 0.080 16 68810224 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2006 2016
dbSNP: rs878854691
rs878854691
1.000 0.080 16 68737418 start lost G/A snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 7 1990 2017
dbSNP: rs1060501244
rs1060501244
1.000 0.080 16 68828204 missense variant G/A;T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2004 2015
dbSNP: rs1555509623
rs1555509623
1.000 0.080 16 68737417 start lost T/C;G snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 6 1990 2017
dbSNP: rs267606712
rs267606712
1.000 0.080 16 68811859 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1994 2013
dbSNP: rs587781276
rs587781276
1.000 0.080 16 68823524 stop gained TG/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 6 2004 2015