Source: CURATED

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: rs6499188
rs6499188
CDH3
1.000 0.040 16 68640885 intron variant G/A;C snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.800 1.000 1 2011 2011
dbSNP: rs121434542
rs121434542
CDH3
0.925 0.120 16 68685288 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1832162
Disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 		0.800 0
dbSNP: rs121434543
rs121434543
CDH3
1.000 0.160 16 68681065 missense variant A/G;T snv 8.0E-06
CUI: C1857041
Disease: Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 		0.800 0
dbSNP: rs147333341
rs147333341
CDH3
16 68708642 intron variant TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTTTTTT delins 0.24
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs147333341
rs147333341
CDH3
16 68708642 intron variant TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTTTTTT delins 0.24
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs1886700
rs1886700
CDH3
1.000 0.080 16 68652002 intron variant C/T snv 0.18
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 1 2013 2013
dbSNP: rs3118228
rs3118228
CDH3
16 68676834 intron variant T/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3118233
rs3118233
CDH3
16 68699743 3 prime UTR variant G/A;C snv 0.30
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs3118233
rs3118233
CDH3
16 68699743 3 prime UTR variant G/A;C snv 0.30
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs724159985
rs724159985
CDH3
0.925 0.160 16 68679936 frameshift variant G/- delins
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.700 1.000 1 2003 2003
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs9924886
rs9924886
CDH3
0.776 0.080 16 68710036 intron variant A/C snv 0.25
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs724159984
rs724159984
CDH3
1.000 0.080 16 68681081 frameshift variant G/- del
CUI: C1832162
Disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 		0.700 0
dbSNP: rs724159985
rs724159985
CDH3
0.925 0.160 16 68679936 frameshift variant G/- delins
CUI: C1857041
Disease: Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 		0.700 0
dbSNP: rs775268226
rs775268226
CDH3
1.000 0.160 16 68698215 missense variant C/A;G;T snv 4.0E-06; 7.2E-05 2.8E-05
CUI: C1857041
Disease: Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 		0.700 0