Source: CLINVAR

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: rs267607277
rs267607277
CALM1
0.807 0.120 14 90404386 missense variant A/G snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.710 1.000 0 2012 2012
dbSNP: rs267607277
rs267607277
CALM1
0.807 0.120 14 90404386 missense variant A/G snv
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.700 1.000 5 2012 2015
dbSNP: rs267607277
rs267607277
CALM1
0.807 0.120 14 90404386 missense variant A/G snv
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 1.000 5 2012 2015