Variant: rs1553345948 

    present in Gene: KCNH1
    present in Chromosome: 1
    Position on Chromosome: 210804164
    Alleles of this Variant: G/A

rs1553345948 in KCNH1 gene and Temple-Baraitser Syndrome PMID 25420144 2015 Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.