Variant: rs137852714

present in Gene: EHMT1 present in Chromosome: 9 Position on Chromosome: 137743418 Alleles of this Variant: C/A;T

rs137852714 in EHMT1 gene and KLEEFSTRA SYNDROME 1 PMID 19264732 2009 Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.