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: rs111033609
rs111033609
ATP8B1
3 0.882 0.200 18 57695188 missense variant C/A;T snv 4.0E-06 0.820 1.000 7 1998 2015
dbSNP: rs121909100
rs121909100
ATP8B1 ; LOC100505549
3 0.882 0.200 18 57669433 missense variant A/G snv 9.6E-05 9.1E-05 0.800 1.000 9 1998 2016
dbSNP: rs121909098
rs121909098
ATP8B1 ; LOC100505549
2 0.925 0.040 18 57661207 missense variant C/T snv 2.0E-05 2.8E-05 0.800 1.000 6 1998 2012
dbSNP: rs121909099
rs121909099
ATP8B1
1 1.000 0.040 18 57695248 missense variant A/G snv 7.0E-06 0.800 1.000 6 1998 2012
dbSNP: rs121909101
rs121909101
ATP8B1
2 0.925 0.200 18 57674993 missense variant C/T snv 0.800 1.000 6 1998 2012
dbSNP: rs121909104
rs121909104
ATP8B1
1 1.000 0.040 18 57688361 missense variant G/A snv 0.800 1.000 6 1998 2012
dbSNP: rs1438249656
rs1438249656
ATP8B1 ; LOC100505549
1 1.000 0.040 18 57652627 missense variant C/T snv 0.700 1.000 6 1998 2012
dbSNP: rs773092889
rs773092889
ATP8B1 ; LOC100505549
1 1.000 0.040 18 57661323 missense variant A/G snv 1.2E-05 0.700 1.000 6 1998 2012
dbSNP: rs121909105
rs121909105
ATP8B1
1 1.000 0.040 18 57674849 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1337978497
rs1337978497
ATP8B1 ; LOC100505549
1 1.000 0.040 18 57669352 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1350369369
rs1350369369
ATP8B1 ; LOC100505549
1 1.000 0.040 18 57668441 missense variant C/T snv 0.700 0
dbSNP: rs147642236
rs147642236
ATP8B1
1 1.000 0.040 18 57684168 missense variant A/G;T snv 3.8E-04; 4.0E-06 0.700 0
dbSNP: rs1562945221
rs1562945221
ABCB4
1 1.000 0.040 7 87402211 frameshift variant -/T delins 0.700 0
dbSNP: rs1562976061
rs1562976061
ABCB4
1 1.000 0.040 7 87440206 frameshift variant A/- delins 0.700 0
dbSNP: rs375315619
rs375315619
ABCB4
4 0.851 0.080 7 87440230 missense variant T/C snv 2.0E-04 9.8E-05 0.700 0
dbSNP: rs377160065
rs377160065
ABCB4
2 0.925 0.040 7 87453005 stop gained G/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs387906381
rs387906381
ATP8B1 ; LOC100505549
1 1.000 0.040 18 57669316 splice donor variant A/G snv 1.3E-05 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