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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs9935563
rs9935563 		1.000 0.040 16 68827753 intron variant T/C snv 0.71
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 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: 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: 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: 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
dbSNP: rs587776398
rs587776398 		1.000 0.080 16 68812149 stop gained T/C;G snv 3.6E-05
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 5 2010 2018
dbSNP: rs587780787
rs587780787 		1.000 0.080 16 68828296 stop gained G/T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2004 2015
dbSNP: rs587783047
rs587783047 		1.000 0.080 16 68801693 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1998 2015
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: rs121964875
rs121964875 		1.000 0.080 16 68738307 stop gained G/A snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 3 1999 2015
dbSNP: rs1555518211
rs1555518211 		1.000 0.080 16 68833296 stop gained A/G;T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 3 1999 2013
dbSNP: rs587781276
rs587781276 		1.000 0.080 16 68823524 stop gained TG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2004 2008
dbSNP: rs587783047
rs587783047 		1.000 0.080 16 68801693 stop gained C/T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 3 1998 2014
dbSNP: rs786202785
rs786202785 		1.000 0.080 16 68828281 stop gained 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 3 2009 2013
dbSNP: rs121964876
rs121964876 		1.000 0.080 16 68738318 stop gained G/T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 2 1999 2000