Variant: rs1554776342 

    present in Gene: SET
    present in Chromosome: 9
    Position on Chromosome: 128691222
    Alleles of this Variant: ACAG/-

rs1554776342 in SET gene and Muscle hypotonia PMID 27775603 2016 Zinc Finger and X-Linked Factor (ZFX) Binds to Human SET Transcript 2 Promoter and Transactivates SET Expression.

PMID 11231286 2001 Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.