Source: UNIPROT

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: rs1555515445
rs1555515445
CDH1
1.000 0.160 16 68810269 missense variant G/C;T snv
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1 		0.800 1.000 1 2017 2017
dbSNP: rs1064794231
rs1064794231
CDH1
1.000 0.080 16 68810240 missense variant A/G snv 7.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 5 2007 2015
dbSNP: rs35572355
rs35572355
CDH1
1.000 0.080 16 68833344 missense variant G/A;C snv 1.7E-04; 4.0E-06
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 1.000 2 1999 2002
dbSNP: rs121964872
rs121964872
CDH1
0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.700 0
dbSNP: rs121964872
rs121964872
CDH1
0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs121964872
rs121964872
CDH1
0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.700 0
dbSNP: rs200932258
rs200932258
CDH1
1.000 0.080 16 68811697 missense variant G/A;T snv 7.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs35187787
rs35187787
CDH1
0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.700 0
dbSNP: rs372989292
rs372989292
CDH1
1.000 0.080 16 68829687 missense variant G/A snv 1.2E-04 1.5E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs780759537
rs780759537
CDH1
1.000 0.080 16 68822082 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.700 0