Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs879253730
rs879253730
SCN3B
11 123642468 missense variant G/C snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 1.000 1 2016 2016
dbSNP: rs397508087
rs397508087
KCNQ1
1.000 0.120 11 2588799 frameshift variant C/-;CC delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs397508101
rs397508101
KCNQ1 ; KCNQ1-AS1
11 2847812 inframe deletion CCA/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs74315447
rs74315447
KCNE2 ; LOC105372791
0.925 0.120 21 34370639 missense variant T/C snv 2.6E-04 2.3E-04
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728425
rs794728425
KCNH2
1.000 0.120 7 150958220 frameshift variant -/GGCGATGGGAGCTGGCCGGG delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728426
rs794728426
KCNH2
7 150958163 frameshift variant CGCG/GCTTTT delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728428
rs794728428
KCNH2
7 150958116 frameshift variant TCGGCCG/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728434
rs794728434
KCNH2
7 150952777 frameshift variant -/CAGG delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728456
rs794728456
KCNH2
7 150947794 frameshift variant G/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728457
rs794728457
KCNH2
7 150947782 frameshift variant TCTCCCC/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728464
rs794728464
KCNH2
7 150947512 splice region variant -/CTGC delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728465
rs794728465
KCNH2
7 150947400 frameshift variant -/G delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728467
rs794728467
KCNH2
7 150947380 frameshift variant -/CCGCC;CGCC delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728470
rs794728470
KCNH2
1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728472
rs794728472
KCNH2
7 150947344 frameshift variant G/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728476
rs794728476
KCNH2
7 150974765 inframe insertion -/ATCTGCGCG delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728489
rs794728489
KCNH2
7 150959670 frameshift variant -/CCAC ins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728497
rs794728497
KCNH2
7 150952840 frameshift variant C/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728499
rs794728499
KCNH2
7 150951578 frameshift variant G/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728500
rs794728500
KCNH2
7 150951013 frameshift variant G/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728506
rs794728506
KCNH2
7 150974918 frameshift variant C/- del
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728507
rs794728507
KCNH2
7 150974912 frameshift variant C/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728508
rs794728508
KCNH2
1.000 0.120 7 150974864 frameshift variant A/- del
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs794728563
rs794728563
KCNQ1
11 2445260 frameshift variant GCCCGGCGCCCCAGGTCCCGCGC/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 0
dbSNP: rs3745297
rs3745297
HRC
0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.040 1.000 4 2011 2018