Variant: rs63749871 

    present in Gene: FGD4
    present in Chromosome: 12
    Position on Chromosome: 32602217
    Alleles of this Variant: T/C;G

rs63749871 in FGD4 gene and Charcot-Marie-Tooth disease type 4 PMID 17564959 2007 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

PMID 17564972 2007 Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.