Variant: rs121908596 

    present in Gene: MAP2K1
    present in Chromosome: 15
    Position on Chromosome: 66436837
    Alleles of this Variant: G/A;T

rs121908596 in MAP2K1 gene and Cardio-facio-cutaneous syndrome PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

rs121908596 in MAP2K1 gene and Coarse features PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

rs121908596 in MAP2K1 gene and Left Ventricular Hypertrophy PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

rs121908596 in MAP2K1 gene and Macroglossia PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

rs121908596 in MAP2K1 gene and Pulmonary Stenosis PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

rs121908596 in MAP2K1 gene and melanoma PMID 19915144 2009 MEK1 mutations confer resistance to MEK and B-RAF inhibition.