Source: UNIPROT

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: rs17217772
rs17217772
MSH2
0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 16 2001 2017
dbSNP: rs201118107
rs201118107
MSH2
1.000 0.160 2 47471051 missense variant A/C;G;T snv 8.0E-06; 1.0E-04; 1.2E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 16 2001 2017
dbSNP: rs63750790
rs63750790
MSH2
1.000 0.160 2 47476425 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 16 2001 2017
dbSNP: rs63750797
rs63750797
MSH2
1.000 0.160 2 47480795 missense variant A/C;G snv 1.2E-05; 4.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 16 2001 2017
dbSNP: rs63751668
rs63751668
MSH2
1.000 0.160 2 47475270 missense variant G/A;C;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 16 2001 2017
dbSNP: rs28929483
rs28929483
MSH2
0.925 0.160 2 47475130 missense variant C/A;G;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 17 2001 2017
dbSNP: rs28929484
rs28929484
MSH2
0.925 0.160 2 47475180 missense variant C/T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 17 2001 2017
dbSNP: rs63750849
rs63750849
MSH2
0.925 0.160 2 47480816 stop gained C/A;T snv 8.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 17 2001 2017
dbSNP: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 17 2001 2017
dbSNP: rs63751062
rs63751062
MSH2
1.000 0.160 2 47416359 missense variant C/A;G;T snv 4.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 17 2001 2017
dbSNP: rs63751107
rs63751107
MSH2
1.000 0.160 2 47403288 missense variant A/C;G snv 6.7E-05; 1.3E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 17 2001 2017
dbSNP: rs63750624
rs63750624
MSH2
0.925 0.160 2 47410211 missense variant G/A snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 20 1994 2016
dbSNP: rs146421227
rs146421227
MSH2
0.882 0.160 2 47482912 missense variant T/A snv 7.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs1553350676
rs1553350676
MSH2
1.000 0.160 2 47410143 missense variant A/G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs193922373
rs193922373
MSH2
1.000 0.160 2 47408493 missense variant G/A snv 2.4E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs267607938
rs267607938
MSH2
1.000 0.160 2 47416344 missense variant A/G snv 8.0E-06 2.8E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs267607959
rs267607959
MSH2
1.000 0.160 2 47463053 missense variant T/A;C snv 4.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs267607981
rs267607981
MSH2
1.000 0.160 2 47475177 missense variant A/G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs267608016
rs267608016
MSH2
1.000 0.160 2 47480754 missense variant T/A snv 8.0E-06 2.8E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs267608023
rs267608023
MSH2
1.000 0.160 2 47482936 missense variant A/C snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs34136999
rs34136999
MSH2
1.000 0.160 2 47414291 missense variant C/T snv 3.0E-04 4.5E-04
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs41295288
rs41295288
MSH2
1.000 0.160 2 47475052 missense variant A/G snv 3.2E-04 2.2E-04
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs587779085
rs587779085
MSH2
1.000 0.160 2 47403322 missense variant C/A;T snv 4.4E-06; 4.4E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs587779116
rs587779116
MSH2
1.000 0.160 2 47475181 missense variant A/G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs587779128
rs587779128
MSH2
1.000 0.160 2 47476384 missense variant AAA/GCC mnv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012