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: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534 		0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534 		0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534 		0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534 		0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.020 1.000 2 2009 2011
dbSNP: rs199689137
rs199689137 		1.000 0.120 2 43822924 stop gained G/A;C;T snv 1.8E-04; 8.0E-06; 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 13 2007 2018
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: 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: rs119480069
rs119480069 		1.000 0.120 2 43824071 missense variant C/T snv 1.5E-04 8.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.710 1.000 1 2010 2010
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: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		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: rs4148191
rs4148191 		2 43815765 intron variant C/A snv 0.13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2016 2016
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: rs17031687
rs17031687 		2 43828248 non coding transcript exon variant C/T snv 7.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
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: 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: 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: 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: rs11887534
rs11887534 		0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		Musculoskeletal Diseases 0.020 1.000 2 2010 2019
dbSNP: rs11887534
rs11887534 		0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534 		0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		Digestive System Diseases 0.010 1.000 1 2014 2014
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