rs62641609, MAMLD1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Sex Differentiation Disorders
CUI: C2930619
Disease: Sex Differentiation Disorders
0.010 GeneticVariation BEFREE The p.P359S, p.N662S and p.H347Q variants are also reported with particularly high frequency of the p.359T- p.662G haplotype in the DSD patients.Severe undervirilization in XY newborns can reveal mutations of MAMLD1. 22479329 2012