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: rs41360247
rs41360247
ABCG8 ; LOC102725159
0.882 0.080 2 43846517 non coding transcript exon variant T/C snv 7.9E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2010 2010
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: rs4245791
rs4245791
ABCG8
0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2010 2010
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.710 1.000 1 2015 2018
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0016977
Disease: Gall Bladder Diseases
Gall Bladder Diseases 		0.010 1.000 1 2016 2016
dbSNP: rs4953023
rs4953023
ABCG8
0.925 0.040 2 43846861 non coding transcript exon variant G/A snv 6.9E-02
CUI: C0016977
Disease: Gall Bladder Diseases
Gall Bladder Diseases 		0.010 1.000 1 2016 2016
dbSNP: rs749661564
rs749661564
ABCG8
0.925 0.040 2 43852775 missense variant C/T snv 4.0E-06
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.010 1.000 1 2019 2019
dbSNP: rs749661564
rs749661564
ABCG8
0.925 0.040 2 43852775 missense variant C/T snv 4.0E-06
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2019 2019
dbSNP: rs6544718
rs6544718
ABCG8
0.882 0.120 2 43877786 missense variant T/A;C;G snv 0.84; 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2010 2010
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: C0016977
Disease: Gall Bladder Diseases
Gall Bladder Diseases 		0.010 1.000 1 2016 2016
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: rs1205128669
rs1205128669
ABCG8
0.925 0.040 2 43877848 missense variant G/A;C snv 4.0E-06
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		0.010 1.000 1 2010 2010
dbSNP: rs1205128669
rs1205128669
ABCG8
0.925 0.040 2 43877848 missense variant G/A;C snv 4.0E-06
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2010 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: 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: rs11887534
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		0.030 1.000 3 2010 2014
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.020 1.000 2 2011 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: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.020 1.000 2 2010 2019
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: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		0.020 1.000 2 2010 2019
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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 0.500 2 2008 2009