Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473573
rs199473573
SCN5A
0.700 GeneticVariation UNIPROT Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome. 19302788

2009
dbSNP: rs199473573
rs199473573
SCN5A
0.700 GeneticVariation UNIPROT We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, and SCN5A-F1705S, in four cases; one case had both KCNH2-T895M and SCN5A-G1084S. 18596570

2008