Source: ALL

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: rs2303428
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2019 2019
dbSNP: rs2303428
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2018 2018
dbSNP: rs2303428
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2303428
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2019 2019
dbSNP: rs2303428
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2303428
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2018 2018
dbSNP: rs2303428
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 1.000 1 2019 2019
dbSNP: rs2303428
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs2303428
rs2303428
MSH2
0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016