Variant: rs746781699 

    present in Gene: GPD1
    present in Chromosome: 12
    Position on Chromosome: 50108042
    Alleles of this Variant: AA/-

rs746781699 in GPD1 gene and Dysmorphic features PMID 24549054 2014 A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

PMID 22226083 2012 Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

PMID 28944580 2017 Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.

rs746781699 in GPD1 gene and Multiple congenital anomalies PMID 24549054 2014 A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

PMID 22226083 2012 Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

PMID 28944580 2017 Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.