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
0.030 GeneticVariation BEFREE The pooled results showed a statistically significant association between LBX1 gene polymorphisms and AIS (for rs11190870, T vs C, OR = 1.54, 95% CI = 1.48-1.61, P < .00001; for rs625039, G vs A, OR = 1.50, 95% CI: 1.38-1.62; P < .00001; for rs678741, G vs A, OR = 0.74, 95% CI: 0.63-0.86; P < .0001; for rs11598564, G vs A, OR = 1.41, 95% CI: 1.31-1.51; P < .0001). 31277174 2019
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.030 GeneticVariation BEFREE Our meta-analysis provides evidence that rs111090870, rs678741 and rs625039 polymorphisms near LBX1 gene are associated with AIS susceptibility in some populations. 27450593 2016
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.030 GeneticVariation BEFREE In addition, we refine a previously reported region associated with AIS at 10q24.32 (rs678741, Pcombined=9.68 × 10(-37)), which suggests LBX1AS1, encoding an antisense transcript of LBX1, might be a functional variant of AIS. 26394188 2015