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: rs121908593
rs121908593
KCNA5
2 0.925 0.080 12 5045975 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs13143308
rs13143308 		4 0.882 0.120 4 110793263 upstream gene variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1352950843
rs1352950843
SCN2B
1 1.000 0.080 11 118168281 frameshift variant CG/- delins 0.010 1.000 1 2009 2009
dbSNP: rs16969925
rs16969925
SCN1B
6 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs16997168
rs16997168 		1 1.000 0.080 4 110707883 intergenic variant C/T snv 0.18 0.700 1.000 1 2009 2009
dbSNP: rs17121819
rs17121819
SCN2B
2 0.925 0.080 11 118168740 missense variant G/A snv 9.2E-05 7.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs17375901
rs17375901
MTHFR
1 1.000 0.080 1 11792459 intron variant C/T snv 4.6E-02 0.800 1.000 1 2009 2009
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1805120
rs1805120
KCNH2
3 0.882 0.080 7 150952443 synonymous variant G/A snv 0.30 0.26 0.010 1.000 1 2009 2009
dbSNP: rs199591851
rs199591851
ACE
1 1.000 0.080 17 63481106 missense variant A/G snv 7.4E-04 6.8E-04 0.010 1.000 1 2009 2009
dbSNP: rs201460753
rs201460753
SCN2B
1 1.000 0.080 11 118168282 missense variant C/A;T snv 4.0E-06; 4.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs2723316
rs2723316 		1 1.000 0.080 4 110713131 intergenic variant T/C snv 0.67 0.700 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 < 0.001 1 2009 2009
dbSNP: rs3807375
rs3807375
KCNH2
2 1.000 0.080 7 150970122 intron variant C/A;T snv 0.010 < 0.001 1 2009 2009
dbSNP: rs72544145
rs72544145
SCN2B
2 0.925 0.080 11 118168739 missense variant C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs72550247
rs72550247
HPN ; SCN1B
2 0.925 0.080 19 35039125 missense variant G/A snv 6.0E-05 8.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs778337208
rs778337208
SCN5A
1 1.000 0.080 3 38622428 missense variant C/T snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs1131691325
rs1131691325
GATA4
2 0.925 0.080 8 11749042 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs13038095
rs13038095
LOC107985401
1 1.000 0.080 20 47796832 intergenic variant G/C;T snv 0.800 1.000 1 2010 2010
dbSNP: rs1906591
rs1906591 		5 0.851 0.200 4 110787733 intergenic variant G/A snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.010 1.000 1 2010 2010
dbSNP: rs55633527
rs55633527
GATA4
2 1.000 0.080 8 11758378 missense variant C/T snv 3.6E-03 3.2E-03 0.010 1.000 1 2010 2010
dbSNP: rs56793579
rs56793579
LMNA
5 0.851 0.240 1 156115102 missense variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs587777556
rs587777556
SCN3B
2 0.925 0.120 11 123642502 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2010 2010