Source: BEFREE ×
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
25 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.800 1.000 10 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: rs738409
rs738409
PNPLA3
80 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.030 1.000 3 2011 2019
dbSNP: rs4148217
rs4148217
ABCG8
8 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: rs6720173
rs6720173
DYNC2LI1 ; ABCG5
5 0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21 0.020 1.000 2 2007 2008
dbSNP: rs8175347
rs8175347
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.020 1.000 2 2016 2019
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: 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: 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: rs147194762
rs147194762
ABCG8
2 0.925 0.040 2 43873860 missense variant A/C;G snv 8.0E-06; 3.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs1800961
rs1800961
HNF4A
3 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2012 2012
dbSNP: rs20575
rs20575
TNFRSF10A
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2014 2014
dbSNP: rs2072183
rs2072183
NPC1L1
3 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.010 1.000 1 2016 2016
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs2287622
rs2287622
ABCB11
15 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 < 0.001 1 2009 2009
dbSNP: rs371055001
rs371055001
GNAS ; GNAS-AS1
3 0.882 0.160 20 58840698 missense variant G/A snv 8.9E-05 7.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs3808607
rs3808607
CYP7A1
16 0.716 0.400 8 58500365 upstream gene variant G/T snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs3824260
rs3824260
CYP7A1
11 0.742 0.160 8 58500631 upstream gene variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4149000
rs4149000
SLCO1A2
3 0.882 0.080 12 21295063 non coding transcript exon variant C/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs56398830
rs56398830
SLC10A2
2 0.925 0.040 13 103049340 missense variant G/A;T snv 1.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs6544718
rs6544718
ABCG8
4 0.882 0.120 2 43877786 missense variant T/A;C;G snv 0.84; 4.0E-06 0.010 1.000 1 2007 2007