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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs1799732
rs1799732
DRD2 ; LOC105369501
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2009 2009
dbSNP: rs386352352
rs386352352
PRKACA
6 0.851 0.080 19 14097604 missense variant A/C snv 0.030 1.000 3 2015 2017
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2012 2012
dbSNP: rs121912535
rs121912535
LHCGR ; GTF2A1L ; STON1-GTF2A1L
6 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs61734277
rs61734277
GCM2
5 0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs7131056
rs7131056
DRD2
6 0.827 0.200 11 113459052 intron variant A/C snv 0.51 0.010 1.000 1 2016 2016
dbSNP: rs719725
rs719725 		7 0.827 0.080 9 6365683 intergenic variant A/C snv 0.34 0.010 < 0.001 1 2010 2010
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 12 2005 2019
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.400 5 2001 2008
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.020 1.000 2 2009 2013
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2019 2019
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 2007 2007
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.010 1.000 1 2012 2012
dbSNP: rs4952490
rs4952490
SLC8A1 ; SLC8A1-AS1
2 1.000 0.080 2 40145564 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs536562413
rs536562413
MSH6 ; FBXO11
15 0.732 0.240 2 47799934 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs6586714
rs6586714
NAT1
2 1.000 8 18216433 intron variant A/G snv 0.84 0.010 1.000 1 2012 2012
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2017 2017
dbSNP: rs746497256
rs746497256
NFE2L2
3 0.925 0.080 2 177231925 synonymous variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs763539313
rs763539313
GAPDH
1 12 6537702 missense variant A/G snv 2.0E-05 4.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs7837328
rs7837328
POU5F1B ; CASC8 ; PCAT1
8 0.882 0.120 8 127410882 intron variant A/G snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2007 2011
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017