Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.030 GeneticVariation BEFREE MAS R201H mutation was identified in both the testes. 18505910

2008
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.030 GeneticVariation BEFREE Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 17101633

2006
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.030 GeneticVariation BEFREE DNA sequence analysis from bone and testis tissues detected the known activating mutation in MAS that results in replacement of Arg by His at codon 201 of the G(s)alpha protein. 11297617

2001