Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1437439236
rs1437439236
SGPL1
0.010 GeneticVariation BEFREE In this report we have performed whole-exome sequencing and identified a new homozygous variant in <i>SGPL1</i>, p.Arg340Trp, in a girl with nephrotic syndrome and Addison's disease. 30090628

2018