Disease: Cartilage-hair hypoplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912521
rs121912521
Entrez Id: 3973;11036;286749
Gene Symbol: LHCGR;GTF2A1L;STON1-GTF2A1L
LHCGR;GTF2A1L;STON1-GTF2A1L
CUI: C0220748
Disease:
Cartilage-hair hypoplasia 		0.010 GeneticVariation BEFREE The brothers had a T577I mutation in the LHR gene.One brother also presented CHH. 19209621 2008