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: rs121918600
rs121918600
RYR2
0.882 0.080 1 237791441 missense variant C/T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.850 1.000 19 2001 2017
dbSNP: rs121918600
rs121918600
RYR2
0.882 0.080 1 237791441 missense variant C/T snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918600
rs121918600
RYR2
0.882 0.080 1 237791441 missense variant C/T snv
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		0.010 1.000 1 2013 2013
dbSNP: rs121918600
rs121918600
RYR2
0.882 0.080 1 237791441 missense variant C/T snv
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.010 1.000 1 2013 2013
dbSNP: rs121918600
rs121918600
RYR2
0.882 0.080 1 237791441 missense variant C/T snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2002 2002