Variant: rs780493577

present in Gene: DCAF17 present in Chromosome: 2 Position on Chromosome: 171473864 Alleles of this Variant: A/C;G

rs780493577 in DCAF17 gene and Woodhouse Sakati syndrome PMID 20507343 2010 C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

PMID 19026396 2008 Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.