Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912530
rs121912530
Entrez Id: 3973;11036;286749
Gene Symbol: LHCGR;GTF2A1L;STON1-GTF2A1L
LHCGR;GTF2A1L;STON1-GTF2A1L
CUI: C4551492
Disease:
Micropenis
0.010 GeneticVariation BEFREE In a patient with micropenis, the analysis revealed a homozygous missense mutation at codon 625 (I625K). 11849253 2002