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: 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: 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: 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: 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: 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: 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: rs121908750
rs121908750
CFTR
1.000 0.120 7 117509140 missense variant G/A snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
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: rs121909015
rs121909015
CFTR
1.000 0.120 7 117642593 missense variant G/C snv 8.0E-06
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: 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: 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: rs121909035
rs121909035
CFTR
1.000 0.120 7 117603719 missense variant C/T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909037
rs121909037
CFTR
1.000 0.120 7 117611653 missense variant A/C;G snv 4.0E-06
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: rs121909042
rs121909042
CFTR
1.000 0.120 7 117652875 missense variant A/C;T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 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: rs193922504
rs193922504
CFTR
1.000 0.120 7 117587827 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 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