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: rs7115242
rs7115242
SIK3
16 0.851 0.120 11 117037567 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs749303395
rs749303395
AMPD1
3 0.882 0.040 1 114680329 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs7626962
rs7626962
SCN5A
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs765547
rs765547 		18 0.827 0.160 8 20008763 intergenic variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7965830
rs7965830
LOC105369844
3 1.000 0.040 12 75962050 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs79661299
rs79661299 		3 1.000 0.040 6 42088268 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs8193037
rs8193037
IL17A
12 0.752 0.320 6 52186311 upstream gene variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs899115126
rs899115126
EDNRA
3 0.882 0.080 4 147542603 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs911119
rs911119
CST3
9 0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs762151808
rs762151808
SERPINA1
2 0.925 0.040 14 94378559 missense variant A/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs567798234
rs567798234
AMPD2
5 0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1253810269
rs1253810269
ARID1A
3 0.882 0.080 1 26696971 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs370579379
rs370579379
RBP4 ; FFAR4
6 0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.020 1.000 2 2015 2015
dbSNP: rs28763958
rs28763958
DSP
3 0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs991104525
rs991104525
ARSB
4 0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs535039125
rs535039125
CYP2B6
5 0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs2241562
rs2241562
HRH2
2 0.925 0.040 5 175684809 intron variant G/C;T snv 1.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs148133894
rs148133894 		3 1.000 0.040 16 24584678 intergenic variant T/C snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs150821281
rs150821281
PKP2
7 0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs149447933
rs149447933
LOC101928331 ; LOC105374942
3 1.000 0.040 6 14453908 intron variant C/G snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs142803096
rs142803096 		3 1.000 0.040 6 14420151 intergenic variant G/C snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs139130723
rs139130723 		3 1.000 0.040 6 14411553 intergenic variant A/G snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs541284506
rs541284506 		3 1.000 0.040 5 30425422 intergenic variant G/A snv 4.4E-03 0.700 1.000 1 2019 2019