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: rs1177309800
rs1177309800 		1.000 0.120 2 43873789 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
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: rs1233989408
rs1233989408 		1.000 0.120 2 43875159 missense variant T/C snv
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1325979386
rs1325979386 		1.000 0.120 2 43875378 missense variant G/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 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: 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
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2009 2009
dbSNP: rs11887534
rs11887534 		0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11887534
rs11887534 		0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2016 2016
dbSNP: rs17031710
rs17031710 		2 43843754 intron variant A/T snv 2.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17031710
rs17031710 		2 43843754 intron variant A/T snv 2.1E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17031710
rs17031710 		2 43843754 intron variant A/T snv 2.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17031710
rs17031710 		2 43843754 intron variant A/T snv 2.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs41360247
rs41360247 		0.882 0.080 2 43846517 non coding transcript exon variant T/C snv 7.9E-02
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs41360247
rs41360247 		0.882 0.080 2 43846517 non coding transcript exon variant T/C snv 7.9E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs4148217
rs4148217 		0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4148217
rs4148217 		0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4148217
rs4148217 		0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4148218
rs4148218 		2 43872443 intron variant G/A snv 0.22
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4148218
rs4148218 		2 43872443 intron variant G/A snv 0.22
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4148218
rs4148218 		2 43872443 intron variant G/A snv 0.22
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4245791
rs4245791 		0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs4245791
rs4245791 		0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4245791
rs4245791 		0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4245791
rs4245791 		0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.700 1.000 1 2013 2013