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: rs1047624774
rs1047624774
ATP2B4
2 1.000 0.120 1 203700807 missense variant T/C snv 4.0E-06 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs10800397
rs10800397
NOS1AP
1 1.000 0.120 1 162267300 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs16847548
rs16847548 		8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs4657139
rs4657139 		3 0.925 0.120 1 162060117 intergenic variant A/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs779760381
rs779760381
SLC2A5
1 1.000 0.120 1 9039877 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs11551462
rs11551462
CALM2
2 0.925 0.120 2 47160802 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs398124647
rs398124647
CALM2
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.700 1.000 14 2000 2011
dbSNP: rs41261344
rs41261344
SCN5A
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.050 1.000 5 2006 2019
dbSNP: rs137854600
rs137854600
SCN5A
6 0.807 0.120 3 38551504 missense variant C/A;T snv 0.040 1.000 4 1998 2004
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
2 1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2004 2017
dbSNP: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.030 1.000 3 2000 2014
dbSNP: rs199473317
rs199473317
SCN5A
3 0.882 0.120 3 38551003 missense variant T/C snv 0.030 1.000 3 2000 2010
dbSNP: rs749697698
rs749697698
SCN5A
3 0.882 0.120 3 38551520 inframe deletion AAG/- delins 2.0E-05 0.700 1.000 3 2000 2009
dbSNP: rs199473096
rs199473096
SCN5A
3 0.882 0.120 3 38606751 missense variant G/A snv 0.020 1.000 2 2007 2015
dbSNP: rs28936686
rs28936686
CAV3 ; SSUH2
4 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 1.000 2 2003 2005
dbSNP: rs36210423
rs36210423
SCN5A
3 0.882 0.120 3 38603887 missense variant G/A;C;T snv 2.1E-04; 4.9E-03 0.020 0.500 2 2008 2010
dbSNP: rs45489199
rs45489199
SCN5A
2 0.925 0.120 3 38550356 missense variant G/C;T snv 1.1E-03 0.020 1.000 2 2007 2011
dbSNP: rs72546668
rs72546668
CAV3 ; SSUH2
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.020 0.500 2 2013 2017
dbSNP: rs104893714
rs104893714
CAV3 ; SSUH2
3 0.925 0.120 3 8745701 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs12720452
rs12720452
SCN5A
5 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.010 < 0.001 1 2008 2008
dbSNP: rs137854614
rs137854614
SCN5A
3 0.882 0.120 3 38550988 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs137854615
rs137854615
SCN5A
4 0.851 0.120 3 38550989 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs199473133
rs199473133
SCN5A
3 0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs199473203
rs199473203
SCN5A
1 1.000 0.120 3 38575345 stop gained C/A;T snv 0.010 < 0.001 1 2008 2008