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: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.760 1.000 6 2004 2012
dbSNP: rs63749993
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.730 0.833 3 1999 2012
dbSNP: rs587779139
rs587779139
MSH2
0.925 0.160 2 47476513 stop gained C/G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2019 2019
dbSNP: rs63750042
rs63750042
MSH2
0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2009 2009
dbSNP: rs63750493
rs63750493
MSH2
1.000 0.160 2 47475100 stop gained C/G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2011 2011
dbSNP: rs63751147
rs63751147
MSH2
0.925 0.160 2 47416375 missense variant T/C;G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2020 2020
dbSNP: rs63751192
rs63751192
MSH2
0.925 0.160 2 47429878 frameshift variant -/CGAC delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2020 2020
dbSNP: rs63751207
rs63751207
MSH2
0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 1994 2012
dbSNP: rs63751624
rs63751624
MSH2
0.925 0.160 2 47480871 missense variant G/A;C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.710 1.000 1 2019 2019
dbSNP: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 1.000 4 2004 2011
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: rs63749993
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.030 0.667 3 2006 2012
dbSNP: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2004 2008
dbSNP: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2004 2008
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: rs63749993
rs63749993
MSH2
0.882 0.200 2 47476424 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2011 2012
dbSNP: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2004 2008
dbSNP: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.020 1.000 2 2008 2011
dbSNP: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.020 1.000 2 2008 2011
dbSNP: rs1057520735
rs1057520735
MSH2
1.000 0.160 2 47476388 stop gained C/G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2011 2011
dbSNP: rs1064793981
rs1064793981
MSH2
1.000 0.040 2 47475030 missense variant G/A snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1064795747
rs1064795747
MSH2
0.925 0.080 2 47412433 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1064795747
rs1064795747
MSH2
0.925 0.080 2 47412433 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2010 2010