Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554919471
rs1554919471
C 0.700 CausalMutation CLINVAR Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. 29372044

2018

dbSNP: rs1554920808
rs1554920808
G 0.700 GeneticVariation CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053

2018

dbSNP: rs1057518916
rs1057518916
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1178187217
rs1178187217
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1247665387
rs1247665387
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554430943
rs1554430943
T 0.700 GeneticVariation CLINVAR

dbSNP: rs199473442
rs199473442
G 0.700 GeneticVariation CLINVAR

dbSNP: rs201943194
rs201943194
T 0.700 CausalMutation CLINVAR

dbSNP: rs543860009
rs543860009
A 0.700 CausalMutation CLINVAR

dbSNP: rs766265889
rs766265889
A 0.700 GeneticVariation CLINVAR

dbSNP: rs868064163
rs868064163
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878854378
rs878854378
A 0.700 GeneticVariation CLINVAR

dbSNP: rs199472730
rs199472730
0.020 GeneticVariation BEFREE More than half of the patients with V254M or S277L suffered sudden cardiac death or syncope. 29439887

2018

dbSNP: rs1805123
rs1805123
0.020 GeneticVariation BEFREE Our findings suggest that K897T may contribute to the occurrence of syncope. 28336205

2017

dbSNP: rs767910122
rs767910122
0.020 GeneticVariation BEFREE Our findings suggest that K897T may contribute to the occurrence of syncope. 28336205

2017

dbSNP: rs794728448
rs794728448
0.020 GeneticVariation BEFREE Our findings suggest that K897T may contribute to the occurrence of syncope. 28336205

2017

dbSNP: rs1805123
rs1805123
0.020 GeneticVariation BEFREE Subgroup analysis showed that the presence of the K897T polymorphism in the LQT2 gene in an affected family was associated with an 11-fold (P=0.001) increase in the risk of recurrent syncope in genotype-negative subjects. 21831960

2011

dbSNP: rs199472730
rs199472730
0.020 GeneticVariation BEFREE We identified a KCNQ1 missense mutation, KCNQ1 S277L, in a patient presenting with recurrent syncope triggered by emotional stress (QTc=528ms). 21241800

2011

dbSNP: rs767910122
rs767910122
0.020 GeneticVariation BEFREE Subgroup analysis showed that the presence of the K897T polymorphism in the LQT2 gene in an affected family was associated with an 11-fold (P=0.001) increase in the risk of recurrent syncope in genotype-negative subjects. 21831960

2011

dbSNP: rs794728448
rs794728448
0.020 GeneticVariation BEFREE Subgroup analysis showed that the presence of the K897T polymorphism in the LQT2 gene in an affected family was associated with an 11-fold (P=0.001) increase in the risk of recurrent syncope in genotype-negative subjects. 21831960

2011

dbSNP: rs786205753
rs786205753
0.010 GeneticVariation BEFREE We studied a five-generation family, in which a CACNA1C variant c.2573G>A p.Arg858His co-segregates with syncope and cardiac arrest, documenting electrocardiographic data and cardiac symptomatology. 30345660

2019

dbSNP: rs915012109
rs915012109
0.010 GeneticVariation BEFREE Results According to whole exome sequencing, we identified a de novo mutation (c.814T>C/p.F272L) of SET and MYND domain containing histone methyltransferase 1 (SMYD1) in a Chinese patient with HCM exhibiting syncope. 30205637

2019

dbSNP: rs120074179
rs120074179
0.010 GeneticVariation BEFREE More than half of the patients with V254M or S277L suffered sudden cardiac death or syncope. 29439887

2018

dbSNP: rs11551437
rs11551437
0.010 GeneticVariation BEFREE We identified a novel CaM mutation-A103V-in CALM3 in 1 of 12 patients (8%), a female who experienced episodes of exertion-induced syncope since age 10, had normal QT interval, and displayed ventricular ectopy during stress testing consistent with CPVT. 27516456

2016

dbSNP: rs121912504
rs121912504
0.010 GeneticVariation BEFREE In the present study, a heterozygous missense mutation (A561V) linked to LQT2, syncope and epilepsy was identified in the S5/pore region of the hERG protein. 26847485

2016