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: 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: 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: 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: 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: 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
dbSNP: rs1131690811
rs1131690811 		16 68813409 frameshift variant -/TA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690812
rs1131690812 		16 68812255 frameshift variant C/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690813
rs1131690813 		16 68829669 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: rs1131690815
rs1131690815 		1.000 0.080 16 68808483 frameshift variant CAGAAGA/-;CAGAAGACAGAAGA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690817
rs1131690817 		16 68822034 frameshift variant -/G delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690819
rs1131690819 		1.000 0.080 16 68810229 frameshift variant T/- del
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1131690819
rs1131690819 		1.000 0.080 16 68810229 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690820
rs1131690820 		16 68811791 stop gained A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690821
rs1131690821 		16 68815602 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs113583899
rs113583899 		1.000 0.080 16 68819279 splice acceptor variant G/C snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121964872
rs121964872 		0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121964872
rs121964872 		0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121964872
rs121964872 		0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121964873
rs121964873 		0.925 0.080 16 68810290 stop gained G/A;T snv 1.2E-05
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121964873
rs121964873 		0.925 0.080 16 68810290 stop gained G/A;T snv 1.2E-05
CUI: C3549742
Disease: Breast cancer, lobular
Breast cancer, lobular 		Neoplasms 0.700 0
dbSNP: rs121964874
rs121964874 		1.000 0.080 16 68823557 stop gained C/A;G;T snv 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121964878
rs121964878 		1.000 0.080 16 68822190 missense variant C/T snv
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		Digestive System Diseases; Neoplasms 0.700 0