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: rs11568372
rs11568372
ABCB11
5 0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04 0.700 1.000 3 1998 2008
dbSNP: rs113090017
rs113090017
NR1H4
4 0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 0.700 1.000 2 2012 2016
dbSNP: rs879255644
rs879255644
NR1H4
2 0.925 0.200 12 100511115 inframe insertion -/AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs111033609
rs111033609
ATP8B1
3 0.882 0.200 18 57695188 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121909100
rs121909100
ATP8B1 ; LOC100505549
3 0.882 0.200 18 57669433 missense variant A/G snv 9.6E-05 9.1E-05 0.700 0
dbSNP: rs121909101
rs121909101
ATP8B1
2 0.925 0.200 18 57674993 missense variant C/T snv 0.700 0
dbSNP: rs515726137
rs515726137
ATP8B1 ; LOC100505549
2 1.000 0.200 18 57669422 stop gained C/A snv 1.4E-05 0.700 0
dbSNP: rs515726138
rs515726138
ATP8B1
1 1.000 0.200 18 57697797 missense variant G/T snv 8.0E-06 0.700 0
dbSNP: rs2109505
rs2109505
ABCB4
6 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.010 1.000 1 2015 2015
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 2019 2019