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: 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: rs1209143268
rs1209143268
ABCG8
1.000 0.040 2 43877840 missense variant T/G snv 8.0E-06
CUI: C0302314
Disease: Xanthoma
Xanthoma 		0.010 1.000 1 2014 2014
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: 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: rs755130225
rs755130225
ABCG8
0.925 0.040 2 43877845 missense variant G/A snv 8.0E-06
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		0.010 1.000 1 2010 2010
dbSNP: rs755130225
rs755130225
ABCG8
0.925 0.040 2 43877845 missense variant G/A snv 8.0E-06
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2010 2010
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: 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: 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: 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: rs6756629
rs6756629
ABCG5 ; ABCG8
0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2013 2013
dbSNP: rs137852988
rs137852988
ABCG8
1.000 0.120 2 43875377 missense variant G/A snv 6.4E-05 2.2E-04
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2013 2013
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: 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: 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