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: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs1064794243
rs1064794243
SCN4A
5 0.851 0.200 17 63941169 missense variant A/T snv 0.010 1.000 1 2005 2005
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: rs11549029
rs11549029
HSPB6 ; PROSER3
1 19 35756950 missense variant G/A snv 8.9E-04 1.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs11568023
rs11568023
AGT
1 1 230712433 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121909298
rs121909298
SGCD
4 0.925 0.040 5 156595000 missense variant T/G snv 2.0E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
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: rs137854607
rs137854607
SCN5A
5 0.882 0.120 3 38554309 missense variant C/G;T snv 0.010 1.000 1 2005 2005
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: 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: rs17465637
rs17465637
MIA3
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.010 1.000 1 2011 2011
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: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1904694
rs1904694
PRKG1
1 10 51145734 intron variant A/G snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs199472968
rs199472968
KCNH2
3 0.925 0.120 7 150951484 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.010 < 0.001 1 2012 2012
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: 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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
dbSNP: rs28935490
rs28935490
GLA ; RPL36A-HNRNPH2
3 1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06 0.010 1.000 1 2009 2009
dbSNP: rs2968857
rs2968857
KCNH2
2 1.000 0.080 7 150965242 intron variant C/T snv 0.70 0.010 1.000 1 2009 2009
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: rs373721390
rs373721390
LMNA
1 1 156114996 synonymous variant C/T snv 2.2E-05 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs376970496
rs376970496
NOX5
1 15 69028303 missense variant T/C snv 0.010 1.000 1 2016 2016