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: 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: rs1042173
rs1042173
SLC6A4
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2010 2010
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 2015 2015
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: rs10483639
rs10483639 		3 1.000 0.040 14 54839739 downstream gene variant G/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs104894379
rs104894379
TBX5
2 1.000 0.120 12 114398675 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
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: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1050565
rs1050565
BLMH
2 1.000 0.080 17 30249058 missense variant T/C snv 0.30 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1051660
rs1051660
OPRK1
3 1.000 0.080 8 53251002 synonymous variant C/A;T snv 0.11 0.010 < 0.001 1 2017 2017
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 2014 2014
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs11674595
rs11674595
IL1R2
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs11709492
rs11709492
SCN11A
1 3 38904493 intron variant C/T snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs11720013
rs11720013
SCN11A
1 3 38924745 intron variant G/T snv 1.0E-01 0.010 1.000 1 2017 2017
dbSNP: rs11720988
rs11720988
SCN11A
1 3 38865054 intron variant G/A snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1172682117
rs1172682117
ERG
1 21 38403690 synonymous variant T/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1176744
rs1176744
HTR3B
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2013 2013
dbSNP: rs11898284
rs11898284
SCN9A ; SCN1A-AS1
1 2 166325017 intron variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs11988795
rs11988795
TRPA1 ; MSC-AS1
1 8 72037366 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1200746244
rs1200746244
MTHFR
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
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 2012 2012
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913365
rs121913365
BRAF
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.010 1.000 1 2004 2004