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: rs1445287184
rs1445287184
PTPRQ ; LOC105369867
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs373611092
rs373611092
COMT ; MIR4761
5 0.925 0.160 22 19962794 missense variant A/G snv 8.4E-05 4.9E-05 0.050 1.000 5 2009 2019
dbSNP: rs10166942
rs10166942
TRPM8
4 0.925 0.040 2 233916448 upstream gene variant T/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs17197936
rs17197936 		3 0.925 0.040 13 37601702 upstream gene variant T/C snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs2206593
rs2206593
PTGS2
3 0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95 0.010 1.000 1 2015 2015
dbSNP: rs2835859
rs2835859
KCNJ6
3 0.925 0.200 21 37645860 intron variant T/C snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs324419
rs324419
FAAH
3 0.925 0.120 1 46406314 stop gained T/A;C snv 0.87 0.010 1.000 1 2012 2012
dbSNP: rs740603
rs740603
COMT
3 0.925 0.040 22 19957654 intron variant A/G snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs8904
rs8904
NFKBIA
4 0.925 0.120 14 35402011 3 prime UTR variant G/A;C;T snv 0.39; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1057518927
rs1057518927
OAT
4 0.925 0.080 10 124402952 missense variant T/C snv 0.700 0
dbSNP: rs10877969
rs10877969
AVPR1A
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.030 1.000 3 2011 2019
dbSNP: rs104894561
rs104894561
CSNK1D
5 0.882 0.120 17 82265743 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs138607170
rs138607170
SCN11A
4 0.882 0.080 3 38925454 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs2653349
rs2653349
HCRTR2
5 0.882 0.120 6 55277539 missense variant A/G;T snv 0.84; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs751416416
rs751416416
OPRK1
5 0.882 0.120 8 53250920 missense variant C/A;T snv 8.3E-06; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs8007267
rs8007267 		6 0.882 0.200 14 54912273 intergenic variant C/T snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs80338761
rs80338761
SEPTIN9
4 0.882 0.080 17 77402298 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs8136867
rs8136867
MAPK1
4 0.882 0.080 22 21850504 intron variant G/A snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs1057518946
rs1057518946
GJB1
8 0.882 0.080 X 71223816 missense variant G/T snv 0.700 0
dbSNP: rs1718125
rs1718125
P2RX7 ; LOC105370032
6 0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19 0.020 1.000 2 2014 2019
dbSNP: rs7958311
rs7958311
P2RX7 ; LOC105370032
5 0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06 0.020 1.000 2 2012 2018
dbSNP: rs1044397
rs1044397
CHRNA4
7 0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1536309
rs1536309
MIR146B
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1676486
rs1676486
COL11A1
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.010 1.000 1 2013 2013