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: rs587779067
rs587779067
MSH2
0.882 0.200 2 47416399 missense variant C/G;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 37 1994 2017
dbSNP: rs63750070
rs63750070
MSH2
0.882 0.160 2 47410245 missense variant T/C;G snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 37 1994 2017
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: rs63750398
rs63750398
MSH2
0.925 0.160 2 47476451 missense variant G/A;T snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 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: rs63750126
rs63750126
MSH2
1.000 0.160 2 47410209 missense variant T/A;C snv
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.800 1.000 36 1994 2017
dbSNP: rs63750206
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 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: rs63750693
rs63750693
MLH1
0.882 0.160 3 37047652 missense variant T/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 35 1996 2017
dbSNP: rs63750710
rs63750710
MLH1
0.925 0.160 3 37020411 missense variant A/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 35 1996 2017
dbSNP: rs121908802
rs121908802
CFTR
0.851 0.160 7 117535263 missense variant C/T snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2016
dbSNP: rs121909009
rs121909009
CFTR ; CFTR-AS1
1.000 0.120 7 117548804 missense variant G/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909016
rs121909016
CFTR
1.000 0.120 7 117540163 missense variant C/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909028
rs121909028
CFTR
1.000 0.120 7 117642577 missense variant T/C snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909031
rs121909031
CFTR
1.000 0.120 7 117530951 missense variant A/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909033
rs121909033
CFTR
1.000 0.120 7 117592110 missense variant A/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909036
rs121909036
CFTR
0.925 0.160 7 117611635 missense variant T/C;G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 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: rs201978662
rs201978662
CFTR
1.000 0.120 7 117592004 missense variant G/A snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 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: rs397508146
rs397508146
CFTR
1.000 0.120 7 117540267 missense variant T/C snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs397508195
rs397508195
CFTR ; CFTR-AS1
1.000 0.120 7 117548797 missense variant G/C;T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.710 1.000 34 1990 2015
dbSNP: rs397508223
rs397508223
CFTR ; CFTR-AS1
1.000 0.120 7 117559581 stop gained G/C;T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015