rs2066479, HSD17B3

N. diseases: 7
Disease: Penis agenesis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Penis agenesis
CUI: C1387005
Disease: Penis agenesis
0.010 GeneticVariation BEFREE Moreover, the previously reported polymorphism p.G289S was identified in a heterozygous state in combination with a novel non-coding variant c.54G>T, also in a heterozygous state, in a male patient presenting with micropenis and low testosterone levels. 26956191 2017