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: rs10163755
rs10163755
DSG4 ; DSG1-AS1
6 0.827 0.200 18 31405413 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs10240738
rs10240738
AOC1 ; LOC105375567
1 1.000 0.080 7 150847046 intron variant C/T snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs10428132
rs10428132
SCN10A
2 0.925 0.120 3 38736063 intron variant T/G snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1046934
rs1046934
TSEN15
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs104893904
rs104893904
NKX2-5
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs104894021
rs104894021
KCNH2
5 0.851 0.120 7 150951629 missense variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10501920
rs10501920
CNTN5
3 0.882 0.080 11 99622442 intron variant C/G snv 0.14 0.010 1.000 1 2007 2007
dbSNP: rs10504554
rs10504554
LY96
1 1.000 0.080 8 74007478 intron variant T/C snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11231397
rs11231397
SLC22A25 ; SLC22A10
1 1.000 0.080 11 63183749 stop lost C/G snv 0.41 0.36 0.010 1.000 1 2017 2017
dbSNP: rs11265611
rs11265611
IL6R
1 1.000 0.080 1 154422649 intron variant G/A snv 0.59 0.010 1.000 1 2014 2014
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: rs113710653
rs113710653
SPATC1L
2 0.925 0.080 21 46161921 missense variant C/T snv 6.5E-02 6.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs11552708
rs11552708
TNFSF13 ; TNFSF12-TNFSF13
5 0.882 0.240 17 7559238 missense variant G/A;C snv 0.13; 4.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs11579055
rs11579055
PPFIA4
1 1.000 0.080 1 203062187 intron variant G/T snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs11708996
rs11708996
SCN5A
6 0.925 0.120 3 38592432 intron variant G/C snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1186411920
rs1186411920
GATA4
1 1.000 0.080 8 11750154 missense variant C/G snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1202891821
rs1202891821
KCNH2
1 1.000 0.080 7 150947849 frameshift variant -/TTGG ins 0.010 1.000 1 2014 2014
dbSNP: rs121434558
rs121434558
GJA5 ; LOC102723321
3 0.882 0.120 1 147758977 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
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: rs121908990
rs121908990
PRKAG2
5 0.827 0.120 7 151560611 missense variant G/A;C snv 0.010 1.000 1 2001 2001
dbSNP: rs121918603
rs121918603
RYR2
3 0.882 0.080 1 237639068 missense variant C/T snv 0.010 1.000 1 2019 2019