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: 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: rs146421227
rs146421227
MSH2
0.882 0.160 2 47482912 missense variant T/A snv 7.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2011 2011
dbSNP: rs63750280
rs63750280
MSH2
1.000 0.160 2 47475129 missense variant C/A;G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2006 2006
dbSNP: rs63750709
rs63750709
MSH2
0.925 0.160 2 47480846 missense variant C/G;T snv 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2006 2006
dbSNP: rs63751236
rs63751236
MSH2
0.882 0.160 2 47475064 missense variant C/G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2012 2012