Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852592
rs137852592
AR
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.020 GeneticVariation BEFREE We have encountered a missense substitution, M807T, which was associated with partially defective androgen binding in a 46,XY infant with ambiguous genitalia. 11818512

2002
dbSNP: rs137852592
rs137852592
AR
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.020 GeneticVariation BEFREE We report a 46,XY infant with an M807T mutation in his androgen receptor that abrogated cellular responses to testosterone, but not to dihydrotestosterone (DHT), resulting in ambiguous genitalia. 10543676

1999