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: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs143267032
rs143267032
CUX1
1 1.000 0.160 7 102028117 missense variant C/G snv 2.8E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs145738773
rs145738773
CASP9
1 1.000 0.160 1 15504663 synonymous variant G/A snv 4.4E-05 1.0E-04 0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs559979934
rs559979934
CASP10
1 1.000 0.160 2 201185838 missense variant C/G;T snv 4.8E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs75002266
rs75002266
ORC4
6 0.827 0.160 2 147939241 missense variant G/A snv 3.2E-03 3.0E-03 0.010 1.000 1 2009 2009
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 2009 2009
dbSNP: rs11064392
rs11064392
CD4
1 1.000 0.160 12 6789226 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.040 0.750 4 2001 2011
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.730 1.000 3 2000 2011
dbSNP: rs1016669
rs1016669
ULK4
1 1.000 0.160 3 41852948 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs10212536
rs10212536
ULK4
1 1.000 0.160 3 41785534 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1025646
rs1025646
ULK4
1 1.000 0.160 3 41712930 intron variant A/T snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs10452020
rs10452020
ULK4
1 1.000 0.160 3 41774459 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10452022
rs10452022
ULK4
1 1.000 0.160 3 41774550 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10485986
rs10485986
DNAH11
1 1.000 0.160 7 21867059 intron variant C/T snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs10510729
rs10510729
ULK4
1 1.000 0.160 3 41790506 intron variant G/A snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs10510731
rs10510731
ULK4
1 1.000 0.160 3 41811818 intron variant C/T snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs10510732
rs10510732 		1 1.000 0.160 3 41965847 upstream gene variant G/A snv 0.12 0.700 1.000 1 2011 2011
dbSNP: rs10510733
rs10510733 		1 1.000 0.160 3 41967700 intergenic variant T/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs1057519718
rs1057519718
BRAF
2 0.925 0.160 7 140753355 missense variant CA/TC mnv 0.010 1.000 1 2011 2011