Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28942084
rs28942084
0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.880 1.000 38 1989 2018
dbSNP: rs121908025
rs121908025
0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.860 1.000 37 1989 2017
dbSNP: rs28942078
rs28942078
0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.840 1.000 35 1989 2017
dbSNP: rs138947766
rs138947766
0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.830 1.000 34 1989 2018
dbSNP: rs368657165
rs368657165
0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 33 1989 2017
dbSNP: rs373822756
rs373822756
0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 33 1989 2017
dbSNP: rs879255000
rs879255000
0.851 0.080 19 11116882 missense variant T/C;G snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 33 1989 2017
dbSNP: rs121908028
rs121908028
0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs121908033
rs121908033
0.882 0.080 19 11105429 missense variant G/A;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs200727689
rs200727689
0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs28942080
rs28942080
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs28942083
rs28942083
0.925 0.080 19 11120382 missense variant G/A;T snv 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs397509365
rs397509365
0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs750518671
rs750518671
0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs879254739
rs879254739
0.925 0.080 19 11110664 missense variant G/A;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs879254849
rs879254849
0.925 0.080 19 11113359 missense variant T/C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 32 1989 2017
dbSNP: rs761954844
rs761954844
0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 31 1989 2017
dbSNP: rs773658037
rs773658037
0.882 0.160 19 11113338 missense variant G/A;C;T snv 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 12 2004 2018
dbSNP: rs746118995
rs746118995
0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 9 1997 2019
dbSNP: rs137929307
rs137929307
0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 1 2009 2009
dbSNP: rs747507019
rs747507019
0.882 0.080 19 11110690 missense variant C/T snv 6.0E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 1 2009 2009
dbSNP: rs570942190
rs570942190
0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 38 1989 2017
dbSNP: rs139624145
rs139624145
0.925 0.080 19 11113620 missense variant G/A;C;T snv 4.0E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 34 1989 2017
dbSNP: rs139043155
rs139043155
0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 33 1989 2017
dbSNP: rs758194385
rs758194385
0.925 0.080 19 11116198 missense variant A/G snv 2.8E-05 7.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 32 1989 2017