Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.050 0.800 5 2006 2019
dbSNP: rs11568367
rs11568367
ABCB11
1 1.000 0.080 2 168970082 missense variant T/C snv 1.4E-02 2.9E-03 0.020 1.000 2 2007 2009
dbSNP: rs11568372
rs11568372
ABCB11
5 0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04 0.020 1.000 2 2007 2009
dbSNP: rs72549402
rs72549402
ABCB11
2 0.925 0.080 2 168972040 missense variant T/C snv 2.0E-05 1.4E-05 0.020 0.500 2 2007 2019
dbSNP: rs1202283
rs1202283
ABCB4
1 1.000 0.080 7 87452976 synonymous variant G/A snv 0.48 0.41 0.010 1.000 1 2009 2009
dbSNP: rs121909103
rs121909103
ATP8B1 ; LOC100505549
2 0.925 0.080 18 57661282 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12721613
rs12721613
NR1I2
3 1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs17222723
rs17222723
ABCC2
2 0.925 0.080 10 99836239 missense variant T/A snv 4.5E-02 5.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs2002042
rs2002042
ABCC2
1 1.000 0.080 10 99828174 intron variant C/T snv 0.27 0.010 1.000 1 2008 2008
dbSNP: rs2230028
rs2230028
ABCB4
5 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2009 2009
dbSNP: rs2461823
rs2461823
NR1I2
2 0.925 0.080 3 119801278 intron variant T/A;C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs34719006
rs34719006
ATP8B1
3 0.882 0.080 18 57706561 missense variant C/A;T snv 1.2E-05; 3.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs3740066
rs3740066
ABCC2
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2008 2008
dbSNP: rs375315619
rs375315619
ABCB4
4 0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs45575636
rs45575636
ABCB4
3 0.882 0.080 7 87431528 missense variant C/G;T snv 4.0E-06; 4.5E-03 0.010 1.000 1 2009 2009
dbSNP: rs473351
rs473351
ABCB11
3 0.925 0.120 2 168923386 3 prime UTR variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs61755050
rs61755050
NR1H4
1 1.000 0.080 12 100532530 missense variant T/C snv 3.8E-03 3.7E-03 0.010 1.000 1 2007 2007
dbSNP: rs72549398
rs72549398
ABCB11
8 0.790 0.240 2 168932442 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs72551307
rs72551307
ABCB11
2 0.925 0.080 2 168995403 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
dbSNP: rs749979628
rs749979628
NR1I2
1 1.000 0.080 3 119810180 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 0.010 1.000 1 2008 2008
dbSNP: rs8187710
rs8187710
ABCC2
6 0.827 0.200 10 99851537 missense variant G/A snv 5.3E-02 8.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs853782
rs853782
ABCB11
1 1.000 0.080 2 168949788 intron variant C/T snv 0.55 0.010 < 0.001 1 2019 2019
dbSNP: rs886043807
rs886043807
ABCB11
2 0.925 0.080 2 168970146 missense variant C/T snv 4.0E-06 2.8E-05 0.010 1.000 1 2007 2007