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: rs1057128
rs1057128
KCNQ1
1 11 2776007 synonymous variant G/A snv 0.21 0.16 0.010 1.000 1 2008 2008
dbSNP: rs1254113735
rs1254113735
PKP2
1 12 32822599 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1339374391
rs1339374391
LMNA
1 1 156135973 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1370940194
rs1370940194
KCNA5
1 12 5044419 missense variant C/T snv 4.4E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1415058026
rs1415058026
KCNQ1
1 11 2588755 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs370819854
rs370819854
SCN5A
1 3 38551456 missense variant C/G snv 8.0E-06 0.010 1.000 1 2008 2008
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: rs7219669
rs7219669 		1 17 70525720 intergenic variant G/T snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs757549384
rs757549384
KCNH2
1 7 150948478 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs397508101
rs397508101
KCNQ1 ; KCNQ1-AS1
1 11 2847812 inframe deletion CCA/- delins 0.700 0
dbSNP: rs794728426
rs794728426
KCNH2
1 7 150958163 frameshift variant CGCG/GCTTTT delins 0.700 0
dbSNP: rs794728428
rs794728428
KCNH2
1 7 150958116 frameshift variant TCGGCCG/- delins 0.700 0
dbSNP: rs794728434
rs794728434
KCNH2
1 7 150952777 frameshift variant -/CAGG delins 0.700 0
dbSNP: rs794728456
rs794728456
KCNH2
1 7 150947794 frameshift variant G/- delins 0.700 0
dbSNP: rs794728457
rs794728457
KCNH2
1 7 150947782 frameshift variant TCTCCCC/- 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: rs794728467
rs794728467
KCNH2
1 7 150947380 frameshift variant -/CCGCC;CGCC delins 0.700 0
dbSNP: rs794728472
rs794728472
KCNH2
1 7 150947344 frameshift variant G/- delins 0.700 0
dbSNP: rs794728476
rs794728476
KCNH2
1 7 150974765 inframe insertion -/ATCTGCGCG delins 0.700 0
dbSNP: rs794728489
rs794728489
KCNH2
1 7 150959670 frameshift variant -/CCAC ins 0.700 0
dbSNP: rs794728497
rs794728497
KCNH2
1 7 150952840 frameshift variant C/- delins 0.700 0
dbSNP: rs794728499
rs794728499
KCNH2
1 7 150951578 frameshift variant G/- delins 0.700 0
dbSNP: rs794728500
rs794728500
KCNH2
1 7 150951013 frameshift variant G/- delins 0.700 0
dbSNP: rs794728506
rs794728506
KCNH2
1 7 150974918 frameshift variant C/- del 0.700 0