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. Author manuscript; available in PMC: 2014 Aug 1.
Published in final edited form as: Circ Cardiovasc Genet. 2013 Jul 15;6(4):10.1161/CIRCGENETICS.113.000023. doi: 10.1161/CIRCGENETICS.113.000023

Table 2.

Selected polymorphisms

Gene rs number Location Amino acid change Tested effect*
ADRA2C rs61767072 exon p.Gly322_Pro325del at risk
ADRB1 rs1801252 exon p.Ser49Gly protective
ADRB1 rs1801253 exon p.Arg389Gly protective
ADRB2 rs28365031 exon p.Glu307_Glu309dup at risk
ATP1B1 rs10919071 intron - protective
KCNE1 rs1805128 exon p.Asp85Asn at risk
KCNH2 rs1805123 exon p.Lys897Thr protective
KCNH2 rs3778873 intron - protective
KCNH2 rs3807375 intron - at risk
KCNH2 rs3815459 intron - at risk
KCNJ2 rs17779747 3′downstream - protective
KCNQ1 rs12296050 intron - at risk
KCNQ1 rs2074238 intron - protective
KCNQ1 rs757092 intron - at risk
NOS1AP rs10494366 intron - at risk
NOS1AP rs12029454 intron - at risk
NOS1AP rs12143842 5′upstream - at risk
NOS1AP rs16857031 intron - at risk
NOS1AP rs4657139 5′upstream - at risk
NOS1AP rs4657178 intron - at risk
CNOT3 rs36643 5′near gene - protective
PLN rs11970286 5′upstream - at risk
PLN rs12210810 5′upstream - protective
SCN5A rs12053903 intron - protective
SCN5A rs1805124 exon p.His558Arg at risk
*

Minor alleles were considered at risk alleles when they increased QTc and the risk of cardiac events, or enhanced adrenergic responses; whereas they were considered as protective alleles when they decreased QTc and risk of cardiac events, or reduced adrenergic responses according to previous studies. Minor alleles were defined according to allele frequencies in Europeans.