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: rs945032
rs945032
BDKRB2
5 0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs1133503
rs1133503
MANEA
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs669
rs669
A2M ; KLRG1
7 0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33 0.010 1.000 1 2000 2000
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2010 2019
dbSNP: rs267606959
rs267606959
POLG
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
dbSNP: rs1555462347
rs1555462347
USP7
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs4916723
rs4916723
LINC00461
4 0.925 0.040 5 88558577 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2023239
rs2023239
CNR1
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2015 2019
dbSNP: rs2254298
rs2254298
CAV3 ; OXTR
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs13438494
rs13438494
PCLO
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs6296
rs6296
HTR1B ; LOC105377864
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.020 1.000 2 2003 2005
dbSNP: rs1126647
rs1126647
CXCL8
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs4570625
rs4570625
TPH2
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs80338758
rs80338758
MED12
12 0.790 0.400 X 71127367 missense variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs754747375
rs754747375
HK1
1 10 69369252 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1466835565
rs1466835565
HK1
1 10 69368539 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs121964849
rs121964849
TPI1
2 1.000 0.120 12 6869741 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs6295
rs6295
HTR1A
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2008 2008
dbSNP: rs1799920
rs1799920
HTR1A
2 5 63961656 missense variant C/G;T snv 3.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs1799921
rs1799921
HTR1A
2 5 63961638 missense variant T/C snv 9.4E-03 9.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs1800044
rs1800044
HTR1A
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 2008 2008
dbSNP: rs120074125
rs120074125
SMPD1
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1044396
rs1044396
CHRNA4
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012