rs523349, SRD5A2

N. diseases: 21
Disease: Micropenis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Micropenis
CUI: C4551492
Disease: Micropenis
0.020 GeneticVariation BEFREE A prevalent variation p.V89L combined with c.655delT was revealed to cause a mild phenotype of 5α-RD2 with a micropenis. 24665940 2014
Micropenis
CUI: C4551492
Disease: Micropenis
0.020 GeneticVariation BEFREE Polymorphism analysis was carried out for the most frequent V89L known to reduce the enzyme activity by approximately 30% in 78 patients, except for the three patients with SRD5A2 mutations, and in the 100 control males by direct sequencing, showing that allele and genotype frequencies were similar between 78 patients with micropenis below -2.0 SD or 40 patients with micropenis below -2.5 SD and the 100 control males, the 50 boys, or the 50 fertile adult males, with no statistically significant differences. 12843198 2003