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: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 0.500 2 2007 2008
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2007 2007
dbSNP: rs201478192
rs201478192
KIDINS220
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs2107356
rs2107356
IL4R
4 0.851 0.240 16 27312083 upstream gene variant C/T snv 0.35 0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
dbSNP: rs1250801605
rs1250801605
CASP10
1 1.000 0.160 2 201185809 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.833 6 2009 2019
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: rs4487645
rs4487645
DNAH11
3 0.882 0.200 7 21898622 intron variant C/A;T snv 0.810 1.000 4 2011 2014
dbSNP: rs1052501
rs1052501
ULK4
2 0.925 0.160 3 41883906 missense variant C/G;T snv 0.80 0.810 1.000 3 2011 2014
dbSNP: rs2272007
rs2272007
ULK4
2 1.000 0.160 3 41954644 missense variant T/C snv 0.79 0.67 0.800 1.000 3 2011 2013
dbSNP: rs6599175
rs6599175
ULK4
1 1.000 0.160 3 41744517 intron variant T/C snv 0.32 0.800 1.000 3 2011 2013
dbSNP: rs6746082
rs6746082
DTNB ; DTNB-AS1
1 1.000 0.160 2 25436375 intron variant A/C;T snv 0.810 1.000 3 2011 2014
dbSNP: rs7577599
rs7577599
DTNB
1 1.000 0.160 2 25390277 intron variant T/C snv 0.26 0.800 1.000 3 2011 2016