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: rs794728708
rs794728708
RYR2
0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.830 1.000 19 2001 2018
dbSNP: rs794728708
rs794728708
RYR2
0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 1.000 7 2005 2014
dbSNP: rs794728708
rs794728708
RYR2
0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.700 0
dbSNP: rs794728708
rs794728708
RYR2
0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.030 1.000 3 2009 2018
dbSNP: rs794728708
rs794728708
RYR2
0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs794728708
rs794728708
RYR2
0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2009 2009
dbSNP: rs794728708
rs794728708
RYR2
0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.010 1.000 1 2009 2009
dbSNP: rs794728708
rs794728708
RYR2
0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		0.010 1.000 1 2009 2009