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: rs9929218
rs9929218
CDH1
0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.850 1.000 5 2008 2016
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: rs587780784
rs587780784
CDH1
1.000 0.080 16 68811854 stop gained C/G;T snv 1.6E-05; 8.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.710 1.000 1 2005 2013
dbSNP: rs9929218
rs9929218
CDH1
0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2008 2013
dbSNP: rs9939049
rs9939049
CDH1
0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.710 1.000 1 2019 2020
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: rs16260
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.020 1.000 2 2011 2013
dbSNP: rs16260
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2012 2018
dbSNP: rs16260
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2005 2019
dbSNP: rs16260
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.020 1.000 2 2011 2013
dbSNP: rs16260
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2017 2019
dbSNP: rs16260
rs16260
CDH1
0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2005 2019
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: rs9929218
rs9929218
CDH1
0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2015 2016
dbSNP: rs10431923
rs10431923
CDH1
0.925 0.120 16 68805360 intron variant G/T snv 0.44
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2018 2018
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: rs10431924
rs10431924
CDH1
0.882 0.120 16 68805399 intron variant T/C snv 0.45
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 1.000 1 2015 2015
dbSNP: rs10431924
rs10431924
CDH1
0.882 0.120 16 68805399 intron variant T/C snv 0.45
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs10431924
rs10431924
CDH1
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) 		0.010 1.000 1 2015 2015
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