rs370116569, DSE;TSPYL1

N. diseases: 2
Disease: OAT syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
OAT syndrome
CUI: C4324573
Disease: OAT syndrome
0.010 GeneticVariation BEFREE Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c.419C>G (p.Ser140Cys), and the rare substitution c.1098C>A (p.Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state. 22137496 2012