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: 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 12 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 6 1999 2012
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 11 1994 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: 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: rs63749831
rs63749831
MSH2
0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 19 1996 2017
dbSNP: rs63749932
rs63749932
MSH2
0.882 0.160 2 47476399 stop gained C/G;T snv 1.6E-05; 4.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 17 1998 2016
dbSNP: rs587779075
rs587779075
MSH2
0.882 0.200 2 47429830 stop gained C/T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 15 1997 2013
dbSNP: rs63750828
rs63750828
MSH2
0.925 0.160 2 47416351 missense variant G/A snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 13 2003 2017
dbSNP: rs63750636
rs63750636
MSH2
0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 9 1998 2014
dbSNP: rs1553361141
rs1553361141
MSH2
1.000 0.160 2 47445546 splice donor variant AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG/- delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 8 2003 2013
dbSNP: rs193922376
rs193922376
MSH2
0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 8 1996 2012
dbSNP: rs267607996
rs267607996
MSH2
0.925 0.160 2 47476382 missense variant G/A;C snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 8 1999 2018
dbSNP: rs63750070
rs63750070
MSH2
0.882 0.160 2 47410245 missense variant T/C;G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 8 2005 2011
dbSNP: rs63750521
rs63750521
MSH2
1.000 0.160 2 47445644 stop gained T/C;G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 8 1994 2005
dbSNP: rs587779157
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 7 2000 2019
dbSNP: rs63749930
rs63749930
MSH2
1.000 0.160 2 47466697 frameshift variant CA/- delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 7 1996 2008
dbSNP: rs63751618
rs63751618
MSH2
0.925 0.160 2 47480866 frameshift variant AG/- delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 7 1995 2008
dbSNP: rs267608017
rs267608017
MSH2
1.000 0.160 2 47480876 splice region variant G/C;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 6 2000 2019
dbSNP: rs63750508
rs63750508
MSH2
0.851 0.240 2 47475126 stop gained C/G;T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 6 1996 2016
dbSNP: rs63751142
rs63751142
MSH2
1.000 0.160 2 47429886 frameshift variant -/T delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 6 2001 2005