Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs35187787
rs35187787
CDH1
0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2001 2001
dbSNP: rs35187787
rs35187787
CDH1
0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2001 2001
dbSNP: rs35187787
rs35187787
CDH1
0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2001 2001
dbSNP: rs35187787
rs35187787
CDH1
0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2001 2001
dbSNP: rs35187787
rs35187787
CDH1
0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2001 2001
dbSNP: rs587776399
rs587776399
CDH1
1.000 0.120 16 68810317 missense variant T/G snv 3.4E-04 3.7E-04
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		0.010 1.000 1 2001 2001
dbSNP: rs587782359
rs587782359
CDH1
1.000 0.080 16 68812244 missense variant C/G;T snv 2.8E-05
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.010 1.000 1 2007 2007
dbSNP: rs587782359
rs587782359
CDH1
1.000 0.080 16 68812244 missense variant C/G;T snv 2.8E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2007 2007
dbSNP: rs587782359
rs587782359
CDH1
1.000 0.080 16 68812244 missense variant C/G;T snv 2.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2007 2007
dbSNP: rs9282655
rs9282655
CDH1
1.000 0.080 16 68823545 missense variant T/C snv
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.010 1.000 1 2007 2007
dbSNP: rs10431923
rs10431923
CDH1
0.925 0.120 16 68805360 intron variant G/T snv 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2009 2009
dbSNP: rs12597188
rs12597188
CDH1
1.000 0.040 16 68780923 intron variant G/A snv 0.33
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2009 2009
dbSNP: rs9935563
rs9935563
CDH1
1.000 0.040 16 68827753 intron variant T/C snv 0.71
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2009 2009
dbSNP: rs9929218
rs9929218
CDH1
0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.010 1.000 1 2010 2010
dbSNP: rs16260
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 1.000 1 2011 2011
dbSNP: rs16260
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.010 1.000 1 2011 2011
dbSNP: rs16260
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 1.000 1 2011 2011
dbSNP: rs1801026
rs1801026
CDH1
1.000 0.120 16 68833553 3 prime UTR variant C/A;G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs1801026
rs1801026
CDH1
1.000 0.120 16 68833553 3 prime UTR variant C/A;G;T snv
CUI: C1335483
Disease: Gastric Diffuse Large B-Cell Lymphoma
Gastric Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 2011 2011
dbSNP: rs5030625
rs5030625
CDH1
0.882 0.160 16 68736944 upstream gene variant A/- del 0.80
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.010 1.000 1 2011 2011
dbSNP: rs587781351
rs587781351
CDH1
1.000 0.040 16 68828263 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2011 2011
dbSNP: rs587781351
rs587781351
CDH1
1.000 0.040 16 68828263 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2011 2011
dbSNP: rs121964877
rs121964877
CDH1
0.851 0.160 16 68822081 stop gained C/G;T snv
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.010 1.000 1 2012 2012
dbSNP: rs121964877
rs121964877
CDH1
0.851 0.160 16 68822081 stop gained C/G;T snv
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		0.010 1.000 1 2012 2012
dbSNP: rs121964877
rs121964877
CDH1
0.851 0.160 16 68822081 stop gained C/G;T snv
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.010 1.000 1 2012 2012