Variant: rs786205134

present in Gene: ALG9 present in Chromosome: 11 Position on Chromosome: 111840653 Alleles of this Variant: A/T

rs786205134 in ALG9 gene and Mesatipellic pelvis PMID 25966638 2016 A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

rs786205134 in ALG9 gene and Polycystic Kidney Diseases PMID 25966638 2016 A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.