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 0.020 1.000 2 2010 2019
dbSNP: rs12882491
rs12882491
TRAF3
3 0.925 0.160 14 102816936 intron variant C/T snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs1801175
rs1801175
G6PC
8 0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 0.010 1.000 1 1995 1995
dbSNP: rs2081687
rs2081687 		6 0.882 0.240 8 58476006 intergenic variant T/C snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2740375
rs2740375
CDHR5
2 0.925 0.160 11 618998 missense variant G/A;C;T snv 0.54; 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs3758650
rs3758650
IRF7 ; CDHR5
3 0.882 0.240 11 616865 3 prime UTR variant G/A snv 5.8E-02 4.7E-02 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 2018 2018
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: rs7932167
rs7932167
CDHR5
2 0.925 0.160 11 620599 intron variant G/T snv 0.73 0.010 < 0.001 1 2011 2011
dbSNP: rs80356489
rs80356489
SLC37A4
3 0.882 0.200 11 119028223 missense variant A/G snv 7.0E-06 0.010 1.000 1 1998 1998