Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854600
rs137854600
SCN5A
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		T 0.840 CausalMutation CLINVAR

dbSNP: rs137854600
rs137854600
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Impaired stretch modulation in potentially lethal cardiac sodium channel mutants. 20090423

2010
dbSNP: rs137854600
rs137854600
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Differential modulation of late sodium current by protein kinase A in R1623Q mutant of LQT3. 19167409

2009
dbSNP: rs137854600
rs137854600
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Intrinsic mechanism of the enhanced rate-dependent QT shortening in the R1623Q mutant of the LQT3 syndrome. 15621041

2005
dbSNP: rs137854600
rs137854600
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR "A revised view of cardiac sodium channel ""blockade"" in the long-QT syndrome." 10772658

2000
dbSNP: rs137854600
rs137854600
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000
dbSNP: rs137854600
rs137854600
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel. 9495298

1998
dbSNP: rs137854600
rs137854600
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 9506831

1998
dbSNP: rs137854600
rs137854600
SCN5A
CUI: C3276241
Disease: LONG QT SYNDROME 3/6, DIGENIC Disorder
LONG QT SYNDROME 3/6, DIGENIC Disorder 		T 0.700 CausalMutation CLINVAR