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: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 1.000 7 2005 2014
dbSNP: rs794728811
rs794728811
RYR2
0.925 0.080 1 237832619 missense variant G/A snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 1.000 4 2003 2016
dbSNP: rs886037907
rs886037907
RYR2
1.000 1 237792278 missense variant C/A snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 1.000 1 2017 2017
dbSNP: rs121918597
rs121918597
RYR2
0.925 0.080 1 237634937 missense variant C/T 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: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918599
rs121918599
RYR2
0.925 0.080 1 237784024 missense variant C/G 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: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918603
rs121918603
RYR2
0.882 0.080 1 237639068 missense variant C/T snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918604
rs121918604
RYR2
0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918605
rs121918605
RYR2
0.925 0.080 1 237784314 missense variant A/G snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs121918606
rs121918606
RYR2
0.925 0.080 1 237819181 missense variant C/G snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs1553343100
rs1553343100
RYR2
1.000 1 237832607 missense variant G/A snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs1558405887
rs1558405887
RYR2
1.000 1 237784262 inframe deletion GAG/- del
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs190140598
rs190140598
RYR2
0.851 0.120 1 237445488 missense variant C/A;T snv 1.2E-05
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs886037908
rs886037908
RYR2
1.000 1 237707056 missense variant C/A snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0
dbSNP: rs886038888
rs886038888
RYR2
1.000 1 237830585 missense variant G/A snv
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		0.700 0