Variant: rs121908332

present in Gene: KCNK9 present in Chromosome: 8 Position on Chromosome: 139618677 Alleles of this Variant: C/G;T

rs121908332 in KCNK9 gene and Birk-Barel Mental Retardation Dysmorphism Syndrome PMID 18678320 2008 Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.