rs886039786, NNT

N. diseases: 2
Disease: Aarskog syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aarskog syndrome
CUI: C0175701
Disease: Aarskog syndrome
0.010 GeneticVariation BEFREE Thus, we examined NNT in six Japanese FGD patients with no recognizable mutation in the previously known four responsible genes for FGD (MC2R, MRAP, STAR, and MCM4), and identified a novel homozygous substitution (c.644T>C; p.Phe215Ser) in a single 17.5-year-old boy. 23474776 2013