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: rs587781290
rs587781290
1.000 0.080 16 68808552 frameshift variant -/A delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 4 2007 2015
dbSNP: rs587781290
rs587781290
1.000 0.080 16 68808552 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2007 2015
dbSNP: rs1555518221
rs1555518221
1.000 0.080 16 68833320 frameshift variant -/C delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 4 1999 2018
dbSNP: rs1375617541
rs1375617541
1.000 0.080 16 68829739 frameshift variant -/C delins 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 1 1998 1998
dbSNP: rs1555518221
rs1555518221
1.000 0.080 16 68833320 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 1 2010 2010
dbSNP: rs876661118
rs876661118
16 68822063 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 1 2004 2004
dbSNP: rs1555516567
rs1555516567
16 68819392 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: rs1555517100
rs1555517100
1.000 0.080 16 68823489 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: rs1555517100
rs1555517100
1.000 0.080 16 68823489 frameshift variant -/C delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1567501500
rs1567501500
1.000 0.080 16 68801874 frameshift variant -/CCGCCCC delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1131690822
rs1131690822
16 68833339 frameshift variant -/G delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2010 2010
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: rs878854690
rs878854690
1.000 0.080 16 68801862 frameshift variant -/G delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1567507825
rs1567507825
16 68813407 frameshift variant -/GT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555514406
rs1555514406
1.000 0.080 16 68801709 frameshift variant -/T delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1555515264
rs1555515264
16 68808755 frameshift variant -/T ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555516532
rs1555516532
16 68819300 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs730881653
rs730881653
16 68823440 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555516200
rs1555516200
1.000 0.080 16 68815760 splice donor variant -/T;TT delins
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
Digestive System Diseases; Neoplasms 0.700 1.000 4 2008 2014
dbSNP: rs1555516200
rs1555516200
1.000 0.080 16 68815760 splice donor variant -/T;TT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2008 2014
dbSNP: rs11426768
rs11426768
16 68766738 intron variant -/T;TT;TTTTTTTT;TTTTTTTTTTTTTT delins
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2016 2016
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: rs5030625
rs5030625
0.882 0.160 16 68736944 upstream gene variant A/- del 0.80
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs5030625
rs5030625
0.882 0.160 16 68736944 upstream gene variant A/- del 0.80
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs5030625
rs5030625
0.882 0.160 16 68736944 upstream gene variant A/- del 0.80
Familial multiple trichoepitheliomata
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011