Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894974
rs104894974
SRY
0.010 GeneticVariation BEFREE In addition, we report the occurrence of the p.G95R mutation in a 46,XY female with complete gonadal dysgenesis. 21344134

2011

dbSNP: rs104894972
rs104894972
SRY
0.010 GeneticVariation BEFREE Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. 10852465

2000