rs371701248, NR5A1

N. diseases: 3
Disease: Testicular regression syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Testicular regression syndrome
CUI: C0266427
Disease: Testicular regression syndrome
0.010 GeneticVariation BEFREE RESULTS A novel heterozygous missense mutation (V355M) in SF1 was found in one boy with a micropenis and testicular regression syndrome. 17940071 2007