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: rs63750582
rs63750582
MSH2
0.925 0.160 2 47410217 missense variant G/A;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 34 1994 2017
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
dbSNP: rs63750027
rs63750027
MSH2
1.000 0.160 2 47480753 missense variant A/G snv 2.4E-05 4.2E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs63750124
rs63750124
MSH2
1.000 0.160 2 47410162 missense variant T/G snv 3.2E-04 3.1E-04
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs63750255
rs63750255
MSH2
1.000 0.160 2 47410226 missense variant G/C snv 8.7E-05 7.0E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs63750285
rs63750285
MSH2
1.000 0.160 2 47403325 missense variant C/T snv 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: rs63750350
rs63750350
MSH2
1.000 0.160 2 47482801 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: rs63750381
rs63750381
MSH2
1.000 0.160 2 47414323 missense variant 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 20 1994 2012
dbSNP: rs63750466
rs63750466
MSH2
1.000 0.160 2 47403195 missense variant G/A snv 1.5E-04 7.7E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs63750492
rs63750492
MSH2
0.925 0.160 2 47466663 missense variant G/T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 20 1994 2012
dbSNP: rs63750602
rs63750602
MSH2
1.000 0.160 2 47416357 missense variant C/G;T snv 4.0E-06; 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: 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: rs63750657
rs63750657
MSH2
1.000 0.160 2 47475072 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 20 1994 2012