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
0.685 0.357 2 43839108 missense variant G/A,C snp 6.4E-06; 6.7E-02 6.4E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.900 0.909 13 2007 2017
dbSNP: rs11887534
rs11887534
0.685 0.357 2 43839108 missense variant G/A,C snp 6.4E-06; 6.7E-02 6.4E-02
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
Digestive System Diseases 0.880 0.875 10 2007 2017
dbSNP: rs119480069
rs119480069
0.923 0.107 2 43824071 missense variant C/T snp 1.5E-04 1.3E-04
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.810 1.000 4 2001 2010
dbSNP: rs119479067
rs119479067
0.923 0.107 2 43823981 missense variant C/G,T snp 2.4E-05 3.2E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 3 2001 2004
dbSNP: rs6756629
rs6756629
1.000 0.036 2 43837951 missense variant G/A,C snp 6.7E-02 6.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1 2009 2009
dbSNP: rs6756629
rs6756629
1.000 0.036 2 43837951 missense variant G/A,C snp 6.7E-02 6.7E-02
Low density lipoprotein cholesterol measurement
0.800 1 2009 2009
dbSNP: rs575266356
rs575266356
0.923 0.107 2 43823926 missense variant G/A,C snp 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 2 2002 2004
dbSNP: rs199689137
rs199689137
1.000 0.107 2 43822924 stop gained G/A,C,T snp 1.8E-04; 8.0E-06; 4.0E-06 9.6E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 8 2007 2017
dbSNP: rs119479067
rs119479067
0.923 0.107 2 43823981 missense variant C/G,T snp 2.4E-05 3.2E-05
Macrothrombocytopenia-Stomatocytosis, Mediterranean
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 3 2001 2004
dbSNP: rs119480069
rs119480069
0.923 0.107 2 43824071 missense variant C/T snp 1.5E-04 1.3E-04
Macrothrombocytopenia-Stomatocytosis, Mediterranean
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 3 2001 2004
dbSNP: rs119479065
rs119479065
1.000 0.107 2 43824015 stop gained G/A snp 2.0E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 2 2000 2001
dbSNP: rs575266356
rs575266356
0.923 0.107 2 43823926 missense variant G/A,C snp 1.3E-04; 1.6E-05
Macrothrombocytopenia-Stomatocytosis, Mediterranean
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 2 2002 2004
dbSNP: rs758551848
rs758551848
0.923 0.107 2 43831834 missense variant C/A,G snp
Macrothrombocytopenia-Stomatocytosis, Mediterranean
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 2 2001 2004
dbSNP: rs758551848
rs758551848
0.923 0.107 2 43831834 missense variant C/A,G snp
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 2 2001 2004
dbSNP: rs11887534
rs11887534
0.685 0.357 2 43839108 missense variant G/A,C snp 6.4E-06; 6.7E-02 6.4E-02
Low density lipoprotein cholesterol measurement
0.700 1 2017 2017
dbSNP: rs11887534
rs11887534
0.685 0.357 2 43839108 missense variant G/A,C snp 6.4E-06; 6.7E-02 6.4E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1 2017 2017
dbSNP: rs119479066
rs119479066
1.000 0.107 2 43826429 stop gained G/A snp 4.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1 2001 2001
dbSNP: rs119480070
rs119480070
1.000 0.107 2 43837870 stop gained C/A snp 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 2005 2005
dbSNP: rs17031687
rs17031687
2 43828248 non coding transcript exon variant C/T snp 7.4E-02
Low density lipoprotein cholesterol measurement
0.700 1 2012 2012
dbSNP: rs387906912
rs387906912
1.000 0.107 2 43838634 stop gained G/A snp
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1 2011 2011
dbSNP: rs4148191
rs4148191
2 43815765 intron variant C/A snp 0.13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1 2017 2017
dbSNP: rs4148191
rs4148191
2 43815765 intron variant C/A snp 0.13
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1 2017 2017
dbSNP: rs6756629
rs6756629
1.000 0.036 2 43837951 missense variant G/A,C snp 6.7E-02 6.7E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.700 1 2011 2011
dbSNP: rs869025350
rs869025350
1.000 0.107 2 43824359 frameshift variant AT/A in-del
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1 2017 2017
dbSNP: rs879255655
rs879255655
1.000 2 43809711 stop gained G/T snp
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
0.700 1 2016 2016