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 0.020 1.000 2 2010 2014
dbSNP: rs1382897404
rs1382897404
ABCB11
4 0.851 0.040 2 169018071 missense variant C/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1478060232
rs1478060232
ABCB11
2 0.925 0.040 2 168969407 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs747471233
rs747471233
ABCB11
2 0.925 0.040 2 169018074 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs769652427
rs769652427
ABCB11
2 0.925 0.040 2 168971917 missense variant G/C snv 1.2E-05 0.010 1.000 1 2010 2010
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 2010 2010
dbSNP: rs58238559
rs58238559
ABCB4
3 0.882 0.120 7 87452957 missense variant T/C snv 1.1E-02 9.2E-03 0.010 1.000 1 2010 2010
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.030 1.000 3 2010 2014
dbSNP: rs1205128669
rs1205128669
ABCG8
2 0.925 0.040 2 43877848 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4148217
rs4148217
ABCG8
11 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs755130225
rs755130225
ABCG8
2 0.925 0.040 2 43877845 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs767587977
rs767587977
APOB
3 0.882 0.120 2 21002962 stop gained C/A;T snv 8.2E-06 0.010 1.000 1 2007 2007