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: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2018 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1453542
rs1453542
OR4D6
3 0.925 0.040 11 59457412 missense variant G/A;C snv 7.2E-05; 0.26 0.010 1.000 1 2016 2016
dbSNP: rs5925720
rs5925720
DDX53 ; PTCHD1-AS
3 0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1537514
rs1537514
MTHFR ; C1orf167
4 0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10 0.010 1.000 1 2014 2014
dbSNP: rs2274407
rs2274407
ABCC4
4 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs2297595
rs2297595
DPYD
10 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs28362731
rs28362731
AQP1
2 7 30922175 missense variant G/A snv 3.1E-02 2.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs76600635
rs76600635
TLR1
3 0.925 0.040 4 38798702 missense variant A/G snv 8.2E-03 2.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs4986910
rs4986910
CYP3A4
3 0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs143873938
rs143873938
FLNA
4 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs67376798
rs67376798
DPYD
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs527297896
rs527297896
GFI1B
2 1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs5030764
rs5030764
GP9
5 0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 0.700 1.000 1 2019 2019
dbSNP: rs146249964
rs146249964
MPL
5 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 0.700 1.000 1 2019 2019
dbSNP: rs28928907
rs28928907
MPL
4 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.700 1.000 1 2019 2019
dbSNP: rs190521996
rs190521996
PMM2
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014