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: rs1401116572
rs1401116572
RYR2
1.000 0.080 1 237441382 missense variant G/A snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.710 1.000 2 2009 2017
dbSNP: rs1401116572
rs1401116572
RYR2
1.000 0.080 1 237441382 missense variant G/A snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2015 2015