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: rs1228402305
rs1228402305
CDH2
0.925 0.080 18 27988557 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 1.000 2 2008 2010
dbSNP: rs1148374
rs1148374
CDH2
1.000 0.040 18 28070318 intron variant T/A snv 0.31
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.010 1.000 1 2016 2016
dbSNP: rs1228402305
rs1228402305
CDH2
0.925 0.080 18 27988557 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2008 2008
dbSNP: rs1228402305
rs1228402305
CDH2
0.925 0.080 18 27988557 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2008 2008
dbSNP: rs12605662
rs12605662
CDH2
1.000 0.040 18 28171702 intron variant G/A snv 0.48
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.010 1.000 1 2016 2016
dbSNP: rs183606230
rs183606230
CDH2
0.882 0.080 18 28013691 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		0.010 1.000 1 2018 2018
dbSNP: rs183606230
rs183606230
CDH2
0.882 0.080 18 28013691 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs183606230
rs183606230
CDH2
0.882 0.080 18 28013691 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.010 1.000 1 2018 2018
dbSNP: rs201333291
rs201333291
CDH2
1.000 0.040 18 27985092 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.010 1.000 1 2013 2013
dbSNP: rs2289664
rs2289664
CDH2
0.925 0.120 18 27952340 missense variant T/C snv 2.5E-02 2.0E-02
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs2289664
rs2289664
CDH2
0.925 0.120 18 27952340 missense variant T/C snv 2.5E-02 2.0E-02
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.010 1.000 1 2013 2013
dbSNP: rs539075
rs539075
CDH2
1.000 0.200 18 28033475 intron variant T/G snv 0.47
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs568089577
rs568089577
CDH2
1.000 0.080 18 27992780 missense variant C/T snv
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.010 1.000 1 2017 2017
dbSNP: rs643555
rs643555
CDH2
0.925 0.080 18 28023702 intron variant C/T snv 0.47
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2019 2019
dbSNP: rs643555
rs643555
CDH2
0.925 0.080 18 28023702 intron variant C/T snv 0.47
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2019 2019