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: rs16260
rs16260 		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: rs9929218
rs9929218 		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: rs11426768
rs11426768 		16 68766738 intron variant -/T;TT;TTTTTTTT;TTTTTTTTTTTTTT delins
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs13689
rs13689 		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: rs16260
rs16260 		0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs34117943
rs34117943 		16 68785740 intron variant T/-;TT;TTT;TTTT delins
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs35158985
rs35158985 		0.882 0.080 16 68762843 intron variant A/G snv 0.38
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs35158985
rs35158985 		0.882 0.080 16 68762843 intron variant A/G snv 0.38
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs35158985
rs35158985 		0.882 0.080 16 68762843 intron variant A/G snv 0.38
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs4783673
rs4783673 		1.000 16 68758190 intron variant T/C;G snv
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs587782359
rs587782359 		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: rs71382075
rs71382075 		16 68796765 intron variant A/-;AA;AAA delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9929218
rs9929218 		0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		0.010 1.000 1 2012 2012
dbSNP: rs9929218
rs9929218 		0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2008 2008
dbSNP: rs9929218
rs9929218 		0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2008 2008
dbSNP: rs9929218
rs9929218 		0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2008 2008
dbSNP: rs9929218
rs9929218 		0.732 0.160 16 68787043 intron variant G/A snv 0.28
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2008 2008
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs9939049
rs9939049 		0.790 0.080 16 68778398 intron variant A/T snv 0.29
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs16260
rs16260 		0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
PROSTATE CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs746481984
rs746481984 		0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06
CUI: C4721859
Disease: Hereditary Diffuse Gastric Adenocarcinoma
Hereditary Diffuse Gastric Adenocarcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs757422353
rs757422353 		0.882 0.200 16 68823432 missense variant C/G snv 4.0E-06
CUI: C4721859
Disease: Hereditary Diffuse Gastric Adenocarcinoma
Hereditary Diffuse Gastric Adenocarcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs876658146
rs876658146 		0.882 0.200 16 68815743 missense variant A/G snv
CUI: C4721859
Disease: Hereditary Diffuse Gastric Adenocarcinoma
Hereditary Diffuse Gastric Adenocarcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019