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: rs13689
rs13689
CDH1
0.851 0.120 16 68834619 3 prime UTR variant T/A;C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2015 2018
dbSNP: rs13689
rs13689
CDH1
0.851 0.120 16 68834619 3 prime UTR variant T/A;C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2015 2018
dbSNP: rs746481984
rs746481984
CDH1
0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.720 1.000 2 2016 2018
dbSNP: rs746481984
rs746481984
CDH1
0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.720 1.000 2 2013 2018
dbSNP: rs746481984
rs746481984
CDH1
0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 1.000 2 2016 2018
dbSNP: rs1060501248
rs1060501248
CDH1
1.000 0.080 16 68829679 frameshift variant G/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs1060501248
rs1060501248
CDH1
1.000 0.080 16 68829679 frameshift variant G/- delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2013 2013
dbSNP: rs12185157
rs12185157
CDH1
0.882 0.120 16 68750684 intron variant G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs12185157
rs12185157
CDH1
0.882 0.120 16 68750684 intron variant G/A;C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs12185157
rs12185157
CDH1
0.882 0.120 16 68750684 intron variant G/A;C;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2018 2018
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
dbSNP: rs13689
rs13689
CDH1
0.851 0.120 16 68834619 3 prime UTR variant T/A;C;G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs13689
rs13689
CDH1
0.851 0.120 16 68834619 3 prime UTR variant T/A;C;G snv
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2018 2018
dbSNP: rs17690554
rs17690554
CDH1
0.925 0.080 16 68835607 downstream gene variant C/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs17690554
rs17690554
CDH1
0.925 0.080 16 68835607 downstream gene variant C/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2012 2012
dbSNP: rs17715799
rs17715799
CDH1
0.882 0.120 16 68796608 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs17715799
rs17715799
CDH1
0.882 0.120 16 68796608 intron variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs17715799
rs17715799
CDH1
0.882 0.120 16 68796608 intron variant A/G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2018 2018
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: rs33935154
rs33935154
CDH1
1.000 0.080 16 68822138 missense variant G/A;T snv 3.5E-03; 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.010 < 0.001 1 2015 2015
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