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: rs6590357
rs6590357
KCNJ5 ; C11orf45
3 0.882 0.120 11 128911444 synonymous variant T/C snv 0.84 0.85 0.010 1.000 1 2017 2017
dbSNP: rs2286466
rs2286466
RPS2 ; SNORA64 ; SNORA10 ; SNORA78 ; SNHG9
1 1.000 0.080 16 1964282 synonymous variant A/G snv 0.81 0.86 0.700 1.000 1 2018 2018
dbSNP: rs1131820
rs1131820
KCNN3
2 0.925 0.080 1 154772376 synonymous variant A/G snv 0.77 0.71 0.020 1.000 2 2011 2014
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.030 1.000 3 2012 2014
dbSNP: rs2244613
rs2244613
CES1
4 0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs2274115
rs2274115
LHX3
1 1.000 0.080 9 136202927 intron variant A/G snv 0.66 0.72 0.700 1.000 1 2018 2018
dbSNP: rs6795970
rs6795970
SCN10A
13 0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70 0.020 1.000 2 2014 2017
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.100 1.000 11 2006 2019
dbSNP: rs5215
rs5215
KCNJ11
7 0.827 0.160 11 17387083 missense variant C/T snv 0.64 0.71 0.010 1.000 1 2013 2013
dbSNP: rs883079
rs883079
TBX5
3 1.000 0.080 12 114355435 3 prime UTR variant C/G;T snv 1.8E-05; 0.61 0.710 1.000 5 2016 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.050 1.000 5 2004 2015
dbSNP: rs133902
rs133902
MYO18B
1 1.000 0.080 22 25768112 splice region variant C/G;T snv 8.7E-06; 0.54 0.700 1.000 2 2018 2018
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs11231397
rs11231397
SLC22A25 ; SLC22A10
1 1.000 0.080 11 63183749 stop lost C/G snv 0.41 0.36 0.010 1.000 1 2017 2017
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.010 1.000 1 2019 2019
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2009 2009
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2012 2012
dbSNP: rs762624
rs762624
CDKN1A ; DINOL
4 0.851 0.280 6 36677811 non coding transcript exon variant A/C;T snv 0.37; 2.4E-05 0.700 1.000 1 2018 2018
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2004 2004
dbSNP: rs1046934
rs1046934
TSEN15
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2306272
rs2306272
LRIG1 ; SLC25A26
2 1.000 0.080 3 66384219 missense variant T/C snv 0.31 0.25 0.700 1.000 1 2018 2018