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: C1969115
Disease: GALLBLADDER DISEASE 4
GALLBLADDER DISEASE 4
Digestive System Diseases 0.700 0
dbSNP: rs119479067
rs119479067
1.000 0.120 2 43823981 missense variant C/G;T snv 2.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs758551848
rs758551848
1.000 0.120 2 43831834 stop gained C/A;G snv
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs869025350
rs869025350
1.000 0.120 2 43824359 frameshift variant T/- delins
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs879255655
rs879255655
0.882 0.120 2 43809711 stop gained G/T snv
CUI: C0426817
Disease: Short ribs
Short ribs
0.700 0
dbSNP: rs879255655
rs879255655
0.882 0.120 2 43809711 stop gained G/T snv
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs879255655
rs879255655
0.882 0.120 2 43809711 stop gained G/T snv
CUI: C0152427
Disease: Polydactyly
Polydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs879255655
rs879255655
0.882 0.120 2 43809711 stop gained G/T snv
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
0.700 0
dbSNP: rs575266356
rs575266356
1.000 0.120 2 43823926 missense variant G/A;C snv 1.3E-04; 1.6E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.710 1.000 4 2001 2004
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
Nutritional and Metabolic Diseases 0.020 1.000 2 2004 2008
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
Digestive System Diseases 0.020 1.000 2 2007 2008
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.020 0.500 2 2008 2009
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
Familial hypercholesterolemia - heterozygous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6756629
rs6756629
0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2009 2009
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: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.030 1.000 3 2007 2010
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.020 0.500 2 2009 2010
dbSNP: rs1014715108
rs1014715108
1.000 0.120 2 43824350 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2010 2010