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: rs2549513
rs2549513
MAF
4 0.851 0.080 16 79516830 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs499818
rs499818 		4 0.851 0.080 6 13332235 upstream gene variant G/A snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs740363
rs740363
HSPA12A
5 0.851 0.080 10 116816095 intron variant G/A snv 0.40 0.010 1.000 1 2007 2007
dbSNP: rs199472687
rs199472687
KCNQ1
5 0.827 0.120 11 2527962 missense variant G/A snv 0.020 1.000 2 2008 2012
dbSNP: rs199473324
rs199473324
SCN5A
2 0.925 0.120 3 38550748 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs587777339
rs587777339
NUP155
2 0.925 0.080 5 37341164 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs58912633
rs58912633
LMNA
5 0.851 0.240 1 156130688 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2106261
rs2106261
ZFHX3
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.900 0.929 14 2009 2019
dbSNP: rs7193343
rs7193343
ZFHX3
3 0.882 0.120 16 72995261 intron variant T/A;C snv 0.870 0.857 7 2009 2019
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.030 1.000 3 2009 2019
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.020 1.000 2 2009 2016
dbSNP: rs17042171
rs17042171 		1 1.000 0.080 4 110787131 intergenic variant C/A snv 0.19 0.810 1.000 2 2009 2016
dbSNP: rs121908591
rs121908591
KCNA5
1 1.000 0.080 12 5045727 missense variant C/T snv 1.4E-04 4.9E-05 0.010 1.000 1 2009 2009
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