Variant: rs769259446 

    present in Gene: SGPL1
    present in Chromosome: 10
    Position on Chromosome: 70868394
    Alleles of this Variant: G/A;C

rs769259446 in SGPL1 gene and NEPHROTIC SYNDROME, TYPE 14 PMID 28165343 2017 Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

PMID 28181337 2017 Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

PMID 30090628 2018 Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.

PMID 28165339 2017 Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.