Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515458
rs397515458
0.925 0.080 6 123503899 stop gained G/A snv 3.1E-05 5.6E-05
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2012 2015
dbSNP: rs1060502114
rs1060502114
1.000 0.080 6 123503894 frameshift variant C/- del
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs535908547
rs535908547
1.000 0.080 6 123438062 splice donor variant C/A;T snv
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0