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: 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: rs9818870
rs9818870
MRAS
9 0.807 0.200 3 138403280 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 3 2002 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2004 2011
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: 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: 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: 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