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: rs63750232
rs63750232
MSH2
0.925 0.160 2 47476435 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 37 1994 2017
dbSNP: rs63750571
rs63750571
MSH2
1.000 0.160 2 47480770 missense variant A/C;G 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 37 1994 2017
dbSNP: rs267607980
rs267607980
MSH2
1.000 0.160 2 47475093 missense variant C/A;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 36 1994 2017
dbSNP: rs267607982
rs267607982
MSH2
1.000 0.160 2 47475198 stop gained C/G;T snv 1.2E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 36 1994 2017
dbSNP: rs267608022
rs267608022
MSH2
0.925 0.200 2 47482858 missense variant C/G;T snv 8.0E-06; 8.4E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 36 1994 2017
dbSNP: rs33946261
rs33946261
MSH2
1.000 0.160 2 47403329 missense variant C/G;T snv 2.2E-04 1.8E-04
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 36 1994 2017
dbSNP: rs55778204
rs55778204
MSH2
0.925 0.160 2 47470993 missense variant A/G snv 2.3E-04 7.7E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 36 1994 2017
dbSNP: rs61756468
rs61756468
MSH2
1.000 0.160 2 47475151 missense variant A/G snv 1.2E-03 4.1E-04
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 36 1994 2017
dbSNP: rs63750732
rs63750732
MSH2
1.000 0.160 2 47416321 missense variant C/A;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 36 1994 2017
dbSNP: rs63750757
rs63750757
MSH2
1.000 0.160 2 47480737 missense variant G/A snv 9.9E-05 7.7E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 36 1994 2017
dbSNP: rs143009528
rs143009528
MLH1
0.925 0.120 3 37025734 missense variant A/C;G;T snv 3.2E-05; 4.8E-05; 8.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 35 1996 2017
dbSNP: rs35045067
rs35045067
MLH1
0.925 0.160 3 37048557 missense variant A/C;G snv 4.4E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 35 1996 2017
dbSNP: rs63750430
rs63750430
MLH1
1.000 0.080 3 37025752 missense variant G/A;C;T snv 5.2E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 35 1996 2017
dbSNP: rs63750449
rs63750449
MLH1
0.925 0.120 3 37047640 missense variant A/C;G;T snv 3.5E-03; 8.4E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 35 1996 2017
dbSNP: rs63750656
rs63750656
MLH1 ; EPM2AIP1
0.882 0.160 3 36993632 missense variant G/T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 35 1996 2017
dbSNP: rs121909020
rs121909020
CFTR
1.000 0.120 7 117611640 missense variant G/A;C snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs121909040
rs121909040
CFTR
1.000 0.120 7 117642466 missense variant G/A snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs145540754
rs145540754
CFTR
1.000 0.120 7 117592246 missense variant T/G snv 7.2E-05; 8.0E-06 3.1E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs150691494
rs150691494
CFTR
1.000 0.120 7 117540132 missense variant A/G snv 2.9E-04 1.8E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs193922506
rs193922506
CFTR
1.000 0.120 7 117595036 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs267607994
rs267607994
MSH2
0.925 0.160 2 47476448 missense variant C/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: rs267607996
rs267607996
MSH2
0.925 0.160 2 47476382 missense variant G/A;C snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.700 1.000 34 1994 2017
dbSNP: rs267608007
rs267608007
MSH2
1.000 0.160 2 47478303 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 34 1994 2017
dbSNP: rs397508280
rs397508280
CFTR
1.000 0.120 7 117590385 missense variant T/C snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs397508306
rs397508306
CFTR
1.000 0.120 7 117591968 missense variant A/G;T snv 4.3E-06; 4.3E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015