Source: ALL
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: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.800 1.000 17 2007 2018
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
Digestive System Diseases 0.800 1.000 11 2007 2018
dbSNP: rs4299376
rs4299376
0.851 0.120 2 43845437 intron variant G/C;T snv
Low density lipoprotein cholesterol measurement
0.800 1.000 9 2010 2019
dbSNP: rs4299376
rs4299376
0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 5 2010 2019
dbSNP: rs4245791
rs4245791
0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
Low density lipoprotein cholesterol measurement
0.800 1.000 4 2013 2019
dbSNP: rs4953023
rs4953023
0.925 0.040 2 43846861 non coding transcript exon variant G/A snv 6.9E-02
Low density lipoprotein cholesterol measurement
0.800 1.000 4 2012 2019
dbSNP: rs6544713
rs6544713
0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75
Low density lipoprotein cholesterol measurement
0.800 1.000 4 2009 2019
dbSNP: rs4953023
rs4953023
0.925 0.040 2 43846861 non coding transcript exon variant G/A snv 6.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 3 2012 2019
dbSNP: rs6544713
rs6544713
0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 2 2013 2019
dbSNP: rs6544713
rs6544713
0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.800 1.000 2 2013 2018
dbSNP: rs6756629
rs6756629
0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 1 2009 2009
dbSNP: rs6756629
rs6756629
0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
Low density lipoprotein cholesterol measurement
0.800 1.000 1 2009 2009
dbSNP: rs4299376
rs4299376
0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.710 1.000 3 2015 2018
dbSNP: rs4245791
rs4245791
0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.710 1.000 2 2007 2016
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 4 2007 2019
dbSNP: rs4299376
rs4299376
0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 4 2010 2013
dbSNP: rs137852988
rs137852988
1.000 0.120 2 43875377 missense variant G/A snv 6.4E-05 2.2E-04
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs137852990
rs137852990
1.000 0.120 2 43852692 missense variant G/A snv 1.4E-04 6.3E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs137852992
rs137852992
1.000 0.120 2 43877591 missense variant T/G snv 7.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs137852993
rs137852993
1.000 0.120 2 43852483 missense variant C/A snv 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs201690654
rs201690654
1.000 0.120 2 43875286 missense variant G/T snv 2.1E-04 1.8E-04
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs34754243
rs34754243
1.000 0.120 2 43852616 missense variant G/A snv 8.9E-04 9.8E-04
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs766212636
rs766212636
1.000 0.120 2 43851812 missense variant G/A snv 2.0E-05 8.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs76866386
rs76866386
2 43848344 non coding transcript exon variant T/C snv 7.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 3 2015 2019
dbSNP: rs769576789
rs769576789
1.000 0.120 2 43875372 missense variant T/C snv 9.6E-05 9.1E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004