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: 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: rs121908751
rs121908751
CFTR
0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 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
dbSNP: rs397508378
rs397508378
CFTR
0.925 0.160 7 117592631 stop gained G/A;T snv 5.2E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs397508759
rs397508759
CFTR
0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs63751656
rs63751656
MSH2
0.925 0.160 2 47466807 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 34 1994 2017
dbSNP: rs11547917
rs11547917
LDLR
0.807 0.200 19 11107491 stop gained C/A;G;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs121908029
rs121908029
LDLR
0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs138947766
rs138947766
LDLR
0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.830 1.000 31 1989 2018
dbSNP: rs144172724
rs144172724
LDLR
0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs146651743
rs146651743
LDLR
0.851 0.160 19 11107402 stop gained C/A;G;T snv 2.5E-04
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs368657165
rs368657165
LDLR
0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.820 1.000 31 1989 2017
dbSNP: rs748944640
rs748944640
LDLR
0.925 0.080 19 11105324 stop gained G/A;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs767618089
rs767618089
LDLR
0.925 0.080 19 11107472 stop gained A/G;T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 1.000 31 1989 2017
dbSNP: rs769318035
rs769318035
LDLR
0.925 0.080 19 11105425 stop gained C/A;G;T snv 8.0E-06; 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs140603
rs140603
FBN1
0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 30 1993 2017
dbSNP: rs28935491
rs28935491
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398390 stop gained G/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 1.000 30 1989 2017
dbSNP: rs199473620
rs199473620
SCN5A
1.000 0.080 3 38554372 stop gained C/A;T snv
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.800 1.000 25 1998 2017
dbSNP: rs397507912
rs397507912
BRCA2
0.882 0.200 13 32355219 stop gained C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 25 1997 2014
dbSNP: rs397508994
rs397508994
BRCA1
0.925 0.080 17 43092856 stop gained A/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 25 1994 2017
dbSNP: rs41293455
rs41293455
BRCA1
0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 1.000 25 1994 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 1.000 24 1990 2017
dbSNP: rs199474742
rs199474742
NF1
1.000 0.120 17 31235728 stop gained C/G;T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 1.000 24 1990 2015
dbSNP: rs199474778
rs199474778
NF1
1.000 0.120 17 31227549 stop gained G/A;C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 1.000 24 1990 2014