Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748421
rs61748421
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 GeneticVariation BEFREE Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in addition to trisomy 21, has now been possible. 15228575

2004