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: rs869025337
rs869025337
BVES
5 0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1860561
rs1860561
ATP2A2
5 0.851 0.080 12 110345436 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs755373114
rs755373114
ANK2
3 0.925 0.080 4 113341742 missense variant A/C snv 7.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs72544141
rs72544141
ANK2
4 0.925 0.120 4 113348277 missense variant A/G snv 5.5E-04 8.3E-04 0.020 1.000 2 2003 2007
dbSNP: rs1204372364
rs1204372364
ANK2
2 1.000 0.120 4 113355900 missense variant T/C snv 8.0E-06 7.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs35530544
rs35530544
ANK2
2 1.000 0.080 4 113367751 missense variant C/A snv 2.5E-03 1.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs372827955
rs372827955
TBX5
2 1.000 0.080 12 114356026 missense variant G/A snv 4.4E-05 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs3825214
rs3825214
TBX5
8 0.851 0.080 12 114357638 intron variant G/A snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs1355262401
rs1355262401
GJA1
2 1.000 0.080 6 121447691 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs397515458
rs397515458
TRDN ; TRDN-AS1
3 0.925 0.080 6 123503899 stop gained G/A snv 3.1E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs879253730
rs879253730
SCN3B
2 11 123642468 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs794728472
rs794728472
KCNH2
1 7 150947344 frameshift variant G/- delins 0.700 0
dbSNP: rs199473024
rs199473024
KCNH2
2 7 150947362 missense variant T/C snv 7.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs794728470
rs794728470
KCNH2
2 1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05 0.700 0
dbSNP: rs794728467
rs794728467
KCNH2
1 7 150947380 frameshift variant -/CCGCC;CGCC delins 0.700 0
dbSNP: rs794728465
rs794728465
KCNH2
1 7 150947400 frameshift variant -/G delins 0.700 0
dbSNP: rs794728464
rs794728464
KCNH2
1 7 150947512 splice region variant -/CTGC delins 0.700 0
dbSNP: rs794728457
rs794728457
KCNH2
1 7 150947782 frameshift variant TCTCCCC/- delins 0.700 0
dbSNP: rs794728456
rs794728456
KCNH2
1 7 150947794 frameshift variant G/- delins 0.700 0
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2010 2017
dbSNP: rs1805123
rs1805123
KCNH2
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.020 1.000 2 2010 2017
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2010 2017
dbSNP: rs757549384
rs757549384
KCNH2
1 7 150948478 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs773724817
rs773724817
KCNH2
4 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.010 1.000 1 2012 2012