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: rs10431923
rs10431923 		0.925 0.120 16 68805360 intron variant G/T snv 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10431923
rs10431923 		0.925 0.120 16 68805360 intron variant G/T snv 0.44
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs10431924
rs10431924 		0.882 0.120 16 68805399 intron variant T/C snv 0.45
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10431924
rs10431924 		0.882 0.120 16 68805399 intron variant T/C snv 0.45
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs10431924
rs10431924 		0.882 0.120 16 68805399 intron variant T/C snv 0.45
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057517542
rs1057517542 		1.000 0.080 16 68829653 splice acceptor variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1057517542
rs1057517542 		1.000 0.080 16 68829653 splice acceptor variant G/A snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060501214
rs1060501214 		1.000 0.080 16 68810201 frameshift variant TC/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060501215
rs1060501215 		1.000 0.080 16 68801878 frameshift variant C/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 2 1999 2007
dbSNP: rs1060501224
rs1060501224 		1.000 0.080 16 68822180 frameshift variant AC/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs1060501226
rs1060501226 		1.000 0.080 16 68738295 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 3 1999 2007
dbSNP: rs1060501237
rs1060501237 		1.000 0.080 16 68811861 splice donor variant T/C snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2004 2010
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: rs1060501244
rs1060501244 		1.000 0.080 16 68828204 missense variant G/A;T snv 8.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 4 2004 2015
dbSNP: rs1060501248
rs1060501248 		1.000 0.080 16 68829679 frameshift variant G/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1060501248
rs1060501248 		1.000 0.080 16 68829679 frameshift variant G/- delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1060501248
rs1060501248 		1.000 0.080 16 68829679 frameshift variant G/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1064794231
rs1064794231 		1.000 0.080 16 68810240 missense variant A/G snv 7.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 5 2007 2015
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: rs1064795703
rs1064795703 		1.000 0.080 16 68801820 frameshift variant C/- delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1131690808
rs1131690808 		1.000 0.080 16 68808568 splice donor variant G/A;T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2004 2010
dbSNP: rs1131690808
rs1131690808 		1.000 0.080 16 68808568 splice donor variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690809
rs1131690809 		16 68808764 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs1131690810
rs1131690810 		1.000 0.080 16 68815725 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690810
rs1131690810 		1.000 0.080 16 68815725 stop gained C/T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0