Variant: rs199947197 

    present in Gene: NEK1
    present in Chromosome: 4
    Position on Chromosome: 169424668
    Alleles of this Variant: G/C

rs199947197 in NEK1 gene and Majewski Syndrome PMID 22499340 2012 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

PMID 21211617 2011 NEK1 mutations cause short-rib polydactyly syndrome type majewski.