Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780564
rs587780564
DYNC1H1
0.710 GeneticVariation BEFREE Combining linkage analysis and whole-exome sequencing, we identified a novel dominant defect in the DYNC1H1 tail domain (c.1792C>T, p.Arg598Cys) causing axonal HMSN. 25512093

2015
dbSNP: rs587780564
rs587780564
DYNC1H1
T 0.710 CausalMutation CLINVAR