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: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.800 1.000 17 2007 2018
dbSNP: rs4148211
rs4148211
ABCG8 ; LOC102725159
3 0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35 0.030 1.000 3 2007 2014
dbSNP: rs6720173
rs6720173
DYNC2LI1 ; ABCG5
5 0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21 0.030 1.000 3 2007 2010
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2011 2019
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: rs4148217
rs4148217
ABCG8
11 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.020 1.000 2 2007 2014
dbSNP: rs4245791
rs4245791
ABCG8
8 0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv 0.710 1.000 2 2007 2016
dbSNP: rs56398830
rs56398830
SLC10A2
3 0.925 0.040 13 103049340 missense variant G/A;T snv 1.0E-02 0.020 1.000 2 2018 2019
dbSNP: rs6742078
rs6742078
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
13 0.807 0.240 2 233763993 intron variant G/T snv 0.36 0.020 1.000 2 2010 2013
dbSNP: rs887829
rs887829
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.810 1.000 2 2012 2016
dbSNP: rs9514089
rs9514089
SLC10A2
3 0.882 0.080 13 103058487 intron variant T/C snv 0.41 0.020 0.500 2 2009 2011
dbSNP: rs10094715
rs10094715 		2 0.925 0.040 8 46473341 intergenic variant A/G snv 9.8E-03 0.700 1.000 1 2007 2007
dbSNP: rs1011770
rs1011770
BAZ2B
2 0.925 0.040 2 159382207 intron variant A/G snv 2.5E-02 0.700 1.000 1 2007 2007
dbSNP: rs10146997
rs10146997
NRXN3
6 0.827 0.240 14 79478819 intron variant A/G snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2007 2007
dbSNP: rs10888095
rs10888095
SGCZ
2 0.925 0.040 8 15004905 intron variant C/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs10998022
rs10998022
MYPN
2 0.925 0.040 10 68210229 intron variant C/T snv 0.26 0.700 1.000 1 2007 2007
dbSNP: rs11110385
rs11110385 		1 1.000 0.040 12 100458927 intergenic variant C/T snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs11110386
rs11110386 		1 1.000 0.040 12 100462559 intergenic variant T/C snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs1111875
rs1111875 		10 0.776 0.360 10 92703125 intergenic variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs11186149
rs11186149
SH2D4B
2 0.925 0.040 10 80580951 intron variant T/C snv 8.6E-02 0.700 1.000 1 2007 2007
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: rs12314274
rs12314274 		2 0.925 0.040 12 85855418 intergenic variant T/C snv 0.37 0.700 1.000 1 2007 2007
dbSNP: rs12362105
rs12362105 		2 0.925 0.040 11 76739864 intergenic variant G/A;T snv 0.700 1.000 1 2007 2007