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: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2010 2010
dbSNP: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
dbSNP: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
dbSNP: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
dbSNP: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		0.010 1.000 1 2011 2011
dbSNP: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
dbSNP: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2011 2011
dbSNP: rs2303426
rs2303426
MSH2
0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs3732183
rs3732183
MSH2
1.000 0.040 2 47466820 intron variant G/A;T snv 0.34; 4.0E-06 0.40
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
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: rs551060742
rs551060742
MSH2
0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs551060742
rs551060742
MSH2
0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2019 2019
dbSNP: rs551060742
rs551060742
MSH2
0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2019 2019
dbSNP: rs551060742
rs551060742
MSH2
0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs551060742
rs551060742
MSH2
0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2019 2019
dbSNP: rs551060742
rs551060742
MSH2
0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2019 2019
dbSNP: rs551060742
rs551060742
MSH2
0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs587779075
rs587779075
MSH2
0.882 0.200 2 47429830 stop gained C/T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.010 1.000 1 2019 2019
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: rs587779139
rs587779139
MSH2
0.925 0.160 2 47476513 stop gained C/G;T snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs63749984
rs63749984
MSH2
0.925 0.160 2 47410340 stop gained G/C;T snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs63750006
rs63750006
MSH2
0.882 0.160 2 47429920 stop gained C/A;G;T snv 5.5E-04; 4.0E-06
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		0.010 1.000 1 2006 2006
dbSNP: rs63750042
rs63750042
MSH2
0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.010 1.000 1 2007 2007
dbSNP: rs63750042
rs63750042
MSH2
0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs63750042
rs63750042
MSH2
0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2009 2009