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: rs72549402
rs72549402
ABCB11
2 0.925 0.080 2 168972040 missense variant T/C snv 2.0E-05 1.4E-05 0.800 1.000 11 1998 2015
dbSNP: rs72549395
rs72549395
ABCB11
1 1.000 0.040 2 168927317 missense variant G/A;C snv 1.2E-05 0.800 1.000 4 1998 2014
dbSNP: rs11568372
rs11568372
ABCB11
5 0.827 0.240 2 168990819 missense variant T/C snv 2.5E-04 1.1E-04 0.710 1.000 1 2004 2004
dbSNP: rs369860506
rs369860506
ABCB11
1 1.000 0.040 2 168973734 missense variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 4 1998 2014
dbSNP: rs72549394
rs72549394
ABCB11
1 1.000 0.040 2 168923785 missense variant C/T snv 0.700 1.000 4 1998 2014
dbSNP: rs72549399
rs72549399
ABCB11
1 1.000 0.040 2 168935296 missense variant C/T snv 4.0E-06 0.700 1.000 4 1998 2014
dbSNP: rs72551305
rs72551305
ABCB11
1 1.000 0.040 2 168986187 missense variant A/T snv 0.700 1.000 4 1998 2014
dbSNP: rs72551306
rs72551306
ABCB11
1 1.000 0.040 2 168993781 missense variant C/A;G snv 0.700 1.000 4 1998 2014
dbSNP: rs769910565
rs769910565
ABCB11
3 0.882 0.040 2 168968498 splice region variant A/C snv 2.5E-05 5.6E-05 0.700 1.000 4 2006 2015
dbSNP: rs1060499579
rs1060499579
ABCB11
2 0.925 0.040 2 168944925 stop gained G/A;T snv 0.700 0
dbSNP: rs1274558905
rs1274558905
ABCB11
1 1.000 0.040 2 168973768 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1553469602
rs1553469602
ABCB11
1 1.000 0.040 2 168990800 splice donor variant C/- delins 0.700 0
dbSNP: rs1558898789
rs1558898789
ABCB11
1 1.000 0.040 2 168973733 stop gained A/T snv 0.700 0
dbSNP: rs1558927163
rs1558927163
ABCB11
1 1.000 0.040 2 169013282 frameshift variant T/- delins 0.700 0
dbSNP: rs188824058
rs188824058
ABCB11
3 0.882 0.040 2 168972025 missense variant C/T snv 9.3E-05 1.3E-04 0.700 0
dbSNP: rs376216286
rs376216286
ABCB11
1 1.000 0.040 2 168964298 missense variant G/A;T snv 4.5E-05; 2.8E-05 0.700 0
dbSNP: rs387906354
rs387906354
ABCB11
1 1.000 0.040 2 169014300 splice region variant T/G snv 0.700 0
dbSNP: rs387907317
rs387907317
ABCB11
1 1.000 0.040 2 168923820 frameshift variant -/G delins 1.2E-05 0.700 0
dbSNP: rs72549397
rs72549397
ABCB11
1 1.000 0.040 2 168932421 stop gained G/A snv 2.3E-05 7.0E-06 0.700 0
dbSNP: rs72549401
rs72549401
ABCB11
1 1.000 0.040 2 168970131 stop gained G/A snv 4.0E-05 1.3E-04 0.700 0
dbSNP: rs752919965
rs752919965
ABCB11
1 1.000 0.040 2 168936256 frameshift variant -/ATCTC delins 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1382100120
rs1382100120
ABCB11
1 1.000 0.040 2 168993817 missense variant G/A snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs745557569
rs745557569
ABCB11
1 1.000 0.040 2 168936415 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs772294884
rs772294884
ABCB11
1 1.000 0.040 2 168944721 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs780186596
rs780186596
ATP8B1
2 0.925 0.040 18 57674855 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2010 2010