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: rs63750828
rs63750828
MSH2
0.925 0.160 2 47416351 missense variant G/A snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 0 2003 2017
dbSNP: rs1085308057
rs1085308057
MSH2
0.925 0.160 2 47475244 missense variant A/G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs1371291280
rs1371291280
MSH2
1.000 0.160 2 47466702 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 0
dbSNP: rs17224367
rs17224367
MSH2
0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs386833406
rs386833406
MSH2
1.000 0.160 2 47478337 missense variant G/A snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs564736113
rs564736113
MSH2
1.000 0.160 2 47429819 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63749841
rs63749841
MSH2
1.000 0.160 2 47478498 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63749936
rs63749936
MSH2
1.000 0.160 2 47412414 missense variant A/C;G;T snv 4.0E-06; 8.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63750773
rs63750773
MSH2
1.000 0.160 2 47410212 missense variant G/C snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63750794
rs63750794
MSH2
1.000 0.160 2 47476529 missense variant C/G;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63750887
rs63750887
MSH2
1.000 0.160 2 47408482 missense variant A/G;T snv 4.0E-06 7.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63750997
rs63750997
MSH2
1.000 0.160 2 47470988 missense variant A/T snv 8.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63751224
rs63751224
MSH2
1.000 0.160 2 47476502 missense variant C/T snv 7.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63751232
rs63751232
MSH2
1.000 0.160 2 47476372 missense variant A/G;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63751236
rs63751236
MSH2
0.882 0.160 2 47475064 missense variant C/G;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63751291
rs63751291
MSH2
1.000 0.160 2 47410251 missense variant T/C snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63751444
rs63751444
MSH2
0.925 0.160 2 47410287 missense variant T/C;G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63751454
rs63751454
MSH2
1.000 0.160 2 47414389 missense variant G/A snv 6.0E-05 7.9E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 0
dbSNP: rs63751207
rs63751207
MSH2
0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 14 2001 2017
dbSNP: rs63750838
rs63750838
MSH2
1.000 0.160 2 47466801 missense variant A/C;G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 14 2001 2017
dbSNP: rs63750881
rs63750881
MSH2
0.925 0.160 2 47412504 stop gained A/C;G;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 14 2001 2017
dbSNP: rs63750961
rs63750961
MSH2
0.925 0.160 2 47476450 missense variant T/C snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 14 2001 2017
dbSNP: rs63751429
rs63751429
MSH2
0.925 0.160 2 47408466 missense variant C/T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 14 2001 2017
dbSNP: rs63751477
rs63751477
MSH2
0.925 0.160 2 47478306 stop gained G/A;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 14 2001 2017
dbSNP: rs63751617
rs63751617
MSH2
0.925 0.160 2 47429742 missense variant A/T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 14 2001 2017