rs1386577803, AR

N. diseases: 4
Disease: Androgen-Insensitivity Syndrome ×
Source: ALL
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
0.720 GeneticVariation BEFREE Two cases were affected with androgen insensitivity syndrome (AIS) (missense mutation on exon 7, position c.3637 G>A: p.R841H and position c.3610 G>A: p.R832Q), one case was affected with 5-alpha-reductase deficiency type 2 (missense mutation at c.578A>G: p.N193S on exon 4), and 22 cases (88%) did not demonstrate AIS or 5α-RD2 gene abnormality. 30815925 2019
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.720 CausalMutation CLINVAR Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. 20150575 2010
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.720 CausalMutation CLINVAR Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome. 10834333 2000
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.720 CausalMutation CLINVAR All the mutations occurred in the steroid-binding domain, comprising exons D through G. The three patients with the premature termination codon(s) and the one patient with Arg831Gln were clinically diagnosed as having complete AIS, while the patient with Leu812Phe had a partial form of AIS. 10458483 1999
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.720 GeneticVariation BEFREE All the mutations occurred in the steroid-binding domain, comprising exons D through G. The three patients with the premature termination codon(s) and the one patient with Arg831Gln were clinically diagnosed as having complete AIS, while the patient with Leu812Phe had a partial form of AIS. 10458483 1999
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.720 CausalMutation CLINVAR Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. 2082179 1990