Variant: rs200472954

present in Gene: LOC105372273;DOCK6 present in Chromosome: 19 Position on Chromosome: 11213198 Alleles of this Variant: C/T

rs200472954 in LOC105372273;DOCK6 gene and ADAMS-OLIVER SYNDROME 2 PMID 21820096 2011 Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.