Variant: rs104894485 

    present in Gene: HCN4
    present in Chromosome: 15
    Position on Chromosome: 73325378
    Alleles of this Variant: C/T

rs104894485 in HCN4 gene and Sick Sinus Syndrome 2, Autosomal Dominant PMID 15123648 2004 Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.

PMID 23103389 2012 Local and global interpretations of a disease-causing mutation near the ligand entry path in hyperpolarization-activated cAMP-gated channel.

PMID 20662977 2010 A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.

PMID 16407510 2006 Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel.