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: rs794728476
rs794728476
KCNH2
1 7 150974765 inframe insertion -/ATCTGCGCG delins 0.700 0
dbSNP: rs794728434
rs794728434
KCNH2
1 7 150952777 frameshift variant -/CAGG delins 0.700 0
dbSNP: rs794728489
rs794728489
KCNH2
1 7 150959670 frameshift variant -/CCAC ins 0.700 0
dbSNP: rs794728467
rs794728467
KCNH2
1 7 150947380 frameshift variant -/CCGCC;CGCC delins 0.700 0
dbSNP: rs794728464
rs794728464
KCNH2
1 7 150947512 splice region variant -/CTGC delins 0.700 0
dbSNP: rs794728465
rs794728465
KCNH2
1 7 150947400 frameshift variant -/G delins 0.700 0
dbSNP: rs794728425
rs794728425
KCNH2
2 1.000 0.120 7 150958220 frameshift variant -/GGCGATGGGAGCTGGCCGGG delins 0.700 0
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: rs794728470
rs794728470
KCNH2
2 1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05 0.700 0
dbSNP: rs794728508
rs794728508
KCNH2
2 1.000 0.120 7 150974864 frameshift variant A/- del 0.700 0
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.040 1.000 4 2011 2018
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: rs199473256
rs199473256
SCN5A
2 1.000 0.120 3 38556460 missense variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs199473387
rs199473387
KCNJ2
2 1.000 0.120 17 70175952 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs220733
rs220733
MAS1
3 1.000 0.080 6 159897771 intron variant A/C;G snv 0.99 0.010 < 0.001 1 2011 2011
dbSNP: rs104893907
rs104893907
NKX2-5
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.030 1.000 3 2007 2014
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: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1415058026
rs1415058026
KCNQ1
1 11 2588755 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs199473405
rs199473405
KCNQ1
2 1.000 0.120 11 2585249 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs71584818
rs71584818
KCNA5
1 12 5044245 missense variant A/T snv 2.4E-04 2.0E-04 0.010 < 0.001 1 2007 2007
dbSNP: rs794728497
rs794728497
KCNH2
1 7 150952840 frameshift variant C/- delins 0.700 0
dbSNP: rs794728506
rs794728506
KCNH2
1 7 150974918 frameshift variant C/- del 0.700 0
dbSNP: rs794728507
rs794728507
KCNH2
1 7 150974912 frameshift variant C/- delins 0.700 0