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: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2005 2019
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2005 2019
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.020 1.000 2 2015 2020
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.020 1.000 2 2015 2020
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 < 0.001 1 2017 2017
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2005 2005
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2010 2010
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2005 2005
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.010 1.000 1 2008 2008
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 < 0.001 1 2017 2017
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2010 2010