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: rs5522
rs5522
NR3C2
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2011 2011
dbSNP: rs1390938
rs1390938
SLC18A1
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2016 2016
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs3740688
rs3740688
SPI1
2 0.925 0.120 11 47358789 missense variant G/A;T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs10005233
rs10005233
SNCA
1 1.000 0.040 4 89822180 3 prime UTR variant C/T snv 0.58 0.59 0.700 1.000 1 2018 2018
dbSNP: rs4290270
rs4290270
TPH2
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2015 2015
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.040 1.000 4 2008 2013
dbSNP: rs1572982
rs1572982
HFE
7 0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.700 1.000 1 2018 2018
dbSNP: rs2710323
rs2710323
ITIH1
7 0.851 0.080 3 52781889 intron variant T/C snv 0.49 0.54 0.700 1.000 1 2018 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.920 25 2004 2019
dbSNP: rs2235632
rs2235632
BAIAP3
3 1.000 0.040 16 1343019 splice region variant G/A snv 0.46 0.42 0.010 1.000 1 2013 2013
dbSNP: rs13440581
rs13440581
GPR50
5 0.882 0.080 X 151181399 missense variant A/G snv 0.45 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1132358
rs1132358
BAIAP3
3 1.000 0.040 16 1347814 synonymous variant C/T snv 0.44 0.39 0.010 1.000 1 2013 2013
dbSNP: rs4434138
rs4434138
STAB1
2 1.000 0.040 3 52522874 missense variant A/G snv 8.0E-06; 0.44 0.39 0.700 1.000 1 2018 2018
dbSNP: rs324981
rs324981
NPSR1 ; NPSR1-AS1
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.060 1.000 6 2011 2017
dbSNP: rs13094915
rs13094915
NISCH
1 1.000 0.040 3 52473703 intron variant G/A;C snv 1.0E-04; 0.42 0.700 1.000 1 2018 2018
dbSNP: rs3751855
rs3751855
ZNF646
1 1.000 0.040 16 31079888 synonymous variant T/A;C snv 0.42 0.46 0.700 1.000 1 2018 2018
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: 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: 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: 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: rs301430
rs301430
SLC1A1 ; SPATA6L
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.010 1.000 1 2010 2010
dbSNP: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.020 < 0.001 2 2013 2014
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 < 0.001 1 2014 2014