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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2004 2011
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: rs11568023
rs11568023
AGT
1 1 230712433 intron variant G/A;T snv 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: rs376970496
rs376970496
NOX5
1 15 69028303 missense variant T/C snv 0.010 1.000 1 2016 2016
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: rs397515126
rs397515126
TSC2
1 16 2084306 frameshift variant -/TCTCCTCG delins 0.010 1.000 1 2019 2019
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: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs59270054
rs59270054
LMNA
6 0.925 0.120 1 156115162 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2011 2011
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: 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: 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: 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: 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: 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: 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: 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