Disease: Testotoxicosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912518
rs121912518
Entrez Id: 3973;11036;286749
Gene Symbol: LHCGR;GTF2A1L;STON1-GTF2A1L
LHCGR;GTF2A1L;STON1-GTF2A1L
CUI: C1504412
Disease:
Testotoxicosis 		0.030 GeneticVariation BEFREE Functional studies were conducted to compare the D578H-LHR mutant with the wild-type (WT)-LHR and the D578G-LHR mutant, a classic cause of testotoxicosis. 21490077 2011
dbSNP: rs121912518
rs121912518
Entrez Id: 3973;11036;286749
Gene Symbol: LHCGR;GTF2A1L;STON1-GTF2A1L
LHCGR;GTF2A1L;STON1-GTF2A1L
CUI: C1504412
Disease:
Testotoxicosis 		0.030 GeneticVariation BEFREE We conclude that the constitutively higher cAMP levels caused by the A572V mutation led to Leydig cell activation and male-limited precocious puberty, as in the previously described D578G mutation. 7714085 1995
dbSNP: rs121912518
rs121912518
Entrez Id: 3973;11036;286749
Gene Symbol: LHCGR;GTF2A1L;STON1-GTF2A1L
LHCGR;GTF2A1L;STON1-GTF2A1L
CUI: C1504412
Disease:
Testotoxicosis 		0.030 GeneticVariation BEFREE We conclude that the aspartic acid578-->glycine mutation in the LH/CGR has arisen in the Japanese population and is the cause of a sporadic case of male-limited precocious puberty. 7527413 1994