Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
0.010 GeneticVariation BEFREE Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K. 25547042

2015