Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.020 1.000 2 2004 2008
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
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 		0.010 1.000 1 2004 2004
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
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 		0.010 1.000 1 2004 2004
dbSNP: rs137854891
rs137854891
ABCG8 ; LOC102725159
1.000 0.120 2 43846309 stop gained C/G snv 1.6E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.010 1.000 1 2004 2004
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.800 1.000 16 2007 2018
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.800 1.000 10 2007 2018
dbSNP: rs4148211
rs4148211
ABCG8 ; LOC102725159
0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.030 1.000 3 2007 2014
dbSNP: rs4148211
rs4148211
ABCG8 ; LOC102725159
0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.030 1.000 3 2007 2014
dbSNP: rs4148217
rs4148217
ABCG8
0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.020 1.000 2 2007 2014
dbSNP: rs4148217
rs4148217
ABCG8
0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.020 1.000 2 2007 2014
dbSNP: rs4245791
rs4245791
ABCG8
0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.710 1.000 1 2007 2016
dbSNP: rs6544718
rs6544718
ABCG8
0.882 0.120 2 43877786 missense variant T/A;C;G snv 0.84; 4.0E-06
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.010 1.000 1 2007 2007
dbSNP: rs6544718
rs6544718
ABCG8
0.882 0.120 2 43877786 missense variant T/A;C;G snv 0.84; 4.0E-06
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2007 2007
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
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 		0.020 0.500 2 2008 2009
dbSNP: rs147194762
rs147194762
ABCG8
0.925 0.040 2 43873860 missense variant A/C;G snv 8.0E-06; 3.8E-04
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.010 1.000 1 2008 2008
dbSNP: rs147194762
rs147194762
ABCG8
0.925 0.040 2 43873860 missense variant A/C;G snv 8.0E-06; 3.8E-04
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2008 2008
dbSNP: rs4148211
rs4148211
ABCG8 ; LOC102725159
0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 1.000 1 2008 2008
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
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
ABCG5 ; ABCG8
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
ABCG5 ; ABCG8
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
ABCG5 ; ABCG8
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 		0.020 0.500 2 2009 2010
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
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 		0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
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: rs11887534
rs11887534
ABCG5 ; ABCG8
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
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.020 1.000 2 2009 2011