Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.020 GeneticVariation BEFREE The association of previously reported novel mutation (rs13107325 in SLC39A8) with AIS was not replicated in the Chinese population. 31513097 2020
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.020 GeneticVariation BEFREE Clinically, the minor allele of rs13107325 is associated with greater spinal curvature, decreased height, increased BMI and lower plasma manganese in our AIS cohort. 30301978 2018