Source: ALL

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: rs121908935
rs121908935
ABCB11
1.000 0.040 2 168976590 missense variant C/G snv
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.810 1.000 2 2004 2005
dbSNP: rs72549402
rs72549402
ABCB11
0.925 0.080 2 168972040 missense variant T/C snv 2.0E-05 1.4E-05
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 1.000 11 1998 2015
dbSNP: rs72549395
rs72549395
ABCB11
1.000 0.040 2 168927317 missense variant G/A;C snv 1.2E-05
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 1.000 4 1998 2014
dbSNP: rs2287623
rs2287623
ABCB11
2 168973645 intron variant G/A snv 0.57
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2013 2018
dbSNP: rs853789
rs853789
ABCB11
2 168944978 intron variant A/G;T snv 0.75
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 2 2012 2018
dbSNP: rs16856332
rs16856332
ABCB11
2 168984064 intron variant T/A;G snv
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.800 1.000 1 2011 2011
dbSNP: rs563694
rs563694
ABCB11
2 168917561 intron variant C/A snv 0.75
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 1 2008 2008
dbSNP: rs569805
rs569805
ABCB11
1.000 0.040 2 168926370 intron variant A/T snv 0.73
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.800 1.000 1 2011 2011
dbSNP: rs11568372
rs11568372
ABCB11
0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.710 1.000 1 2004 2004
dbSNP: rs11568372
rs11568372
ABCB11
0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.710 1.000 1 2005 2005
dbSNP: rs369860506
rs369860506
ABCB11
1.000 0.040 2 168973734 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 1.000 4 1998 2014
dbSNP: rs72549394
rs72549394
ABCB11
1.000 0.040 2 168923785 missense variant C/T snv
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 1.000 4 1998 2014
dbSNP: rs72549399
rs72549399
ABCB11
1.000 0.040 2 168935296 missense variant C/T snv 4.0E-06
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 1.000 4 1998 2014
dbSNP: rs72551305
rs72551305
ABCB11
1.000 0.040 2 168986187 missense variant A/T snv
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 1.000 4 1998 2014
dbSNP: rs72551306
rs72551306
ABCB11
1.000 0.040 2 168993781 missense variant C/A;G snv
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 1.000 4 1998 2014
dbSNP: rs769910565
rs769910565
ABCB11
0.882 0.040 2 168968498 splice region variant A/C snv 2.5E-05 5.6E-05
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 1.000 4 2006 2015
dbSNP: rs11568372
rs11568372
ABCB11
0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.700 1.000 3 1998 2008
dbSNP: rs16856247
rs16856247
ABCB11
2 168927903 intron variant C/T snv 6.6E-02
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 3 2011 2019
dbSNP: rs10176901
rs10176901
ABCB11
2 168974151 intron variant G/A snv 0.57
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2019 2019
dbSNP: rs72549398
rs72549398
ABCB11
0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.700 1.000 2 2004 2005
dbSNP: rs72549400
rs72549400
ABCB11
1.000 0.040 2 168936268 missense variant C/G snv
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.700 1.000 2 2004 2005
dbSNP: rs72551307
rs72551307
ABCB11
0.925 0.080 2 168995403 missense variant T/C snv
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.700 1.000 2 2004 2005
dbSNP: rs756220860
rs756220860
ABCB11
1.000 0.040 2 168930693 missense variant C/T snv 4.2E-06 1.4E-05
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.700 1.000 2 2004 2005
dbSNP: rs777469571
rs777469571
ABCB11
1.000 0.040 2 168936277 missense variant T/C;G snv 4.0E-06
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.700 1.000 2 2004 2005
dbSNP: rs10176901
rs10176901
ABCB11
2 168974151 intron variant G/A snv 0.57
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2019 2019