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: rs121918598
rs121918598
RYR2
0.851 0.080 1 237648523 missense variant G/A;C snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.720 1.000 21 2001 2019
dbSNP: rs121918598
rs121918598
RYR2
0.851 0.080 1 237648523 missense variant G/A;C snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918598
rs121918598
RYR2
0.851 0.080 1 237648523 missense variant G/A;C snv
CUI: C0018801
Disease: Heart failure
Heart failure 		0.010 1.000 1 2018 2018
dbSNP: rs121918598
rs121918598
RYR2
0.851 0.080 1 237648523 missense variant G/A;C snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2018 2018