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: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2014 2014
dbSNP: rs11568023
rs11568023
AGT
1 1 230712433 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2006 2016
dbSNP: rs137854602
rs137854602
SCN5A
5 0.925 0.080 3 38555664 missense variant G/A snv 5.6E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs376970496
rs376970496
NOX5
1 15 69028303 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs532019808
rs532019808
NOX4
8 0.827 0.120 11 89451807 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs763802417
rs763802417
NOX1
5 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 0.010 1.000 1 2016 2016
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2007 2017
dbSNP: rs3211892
rs3211892
CD36
2 1.000 0.080 7 80661053 intron variant A/G snv 0.97 0.92 0.010 1.000 1 2017 2017
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs72546668
rs72546668
CAV3 ; SSUH2
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs10911021
rs10911021
LINC01344 ; LOC105371642
11 0.807 0.160 1 182112825 intron variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs139794067
rs139794067
MYL3
3 0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs3853601
rs3853601
DDX39B ; ATP6V1G2-DDX39B
2 1.000 0.080 6 31531826 intron variant C/G snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs148398509
rs148398509
HCN4
5 0.882 0.160 15 73323445 missense variant G/C snv 7.8E-03 7.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs199472968
rs199472968
KCNH2
3 0.925 0.120 7 150951484 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs397515126
rs397515126
TSC2
1 16 2084306 frameshift variant -/TCTCCTCG delins 0.010 1.000 1 2019 2019