Variant: rs104894575 

    present in Gene: KCNJ2
    present in Chromosome: 17
    Position on Chromosome: 70175251
    Alleles of this Variant: A/T

rs104894575 in KCNJ2 gene and Andersen Syndrome PMID 11371347 2001 Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

PMID 16571646 2006 Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

PMID 17324964 2007 Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

PMID 12163457 2002 Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

PMID 12148092 2002 KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.