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: rs1277240795
rs1277240795
OGA
2 1.000 0.040 10 101791382 missense variant G/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1709393
rs1709393
LINC02085
2 1.000 0.080 3 101980310 intron variant C/T snv 0.55 0.700 1.000 2 2016 2019
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs4623951
rs4623951
DAO
3 0.925 0.080 12 108878275 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2070587
rs2070587
DAO
5 0.882 0.080 12 108883967 intron variant T/G snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs2111902
rs2111902
DAO
3 0.925 0.080 12 108884971 intron variant T/A;G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs3741775
rs3741775
DAO
3 0.925 0.080 12 108889827 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs11669576
rs11669576
LDLR ; MIR6886
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2572431
rs2572431 		2 1.000 0.040 8 11247568 downstream gene variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1012176
rs1012176
CTNND2
1 5 11320426 intron variant G/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs900418273
rs900418273
ANKK1
8 0.807 0.120 11 113393764 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1110976
rs1110976
DRD2
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs4245146
rs4245146
DRD2
3 1.000 0.040 11 113447251 intron variant T/C snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2013 2013
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6330
rs6330
NGF ; NGF-AS1
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.020 0.500 2 2008 2012
dbSNP: rs10112596
rs10112596
GATA4
3 0.925 0.120 8 11722293 intron variant A/G snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs8192506
rs8192506
DBI
2 1.000 0.040 2 119372265 missense variant A/C;G snv 4.0E-06; 2.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs3817190
rs3817190
CAMKK2
6 0.851 0.080 12 121274274 missense variant T/A;G snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1043307
rs1043307
PSMD9
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs56242606
rs56242606
VWDE
2 1.000 0.040 7 12382283 intron variant T/C snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs10893268
rs10893268
OR8A1
1 11 124568716 intron variant C/T snv 0.40 0.700 1.000 1 2014 2014