Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906738
rs387906738
DYNC1H1
0.800 GeneticVariation UNIPROT Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. 25512093

2015
dbSNP: rs387906738
rs387906738
DYNC1H1
0.800 GeneticVariation UNIPROT Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. 24307404

2014
dbSNP: rs387906738
rs387906738
DYNC1H1
0.800 GeneticVariation UNIPROT Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 21820100

2011
dbSNP: rs387906738
rs387906738
DYNC1H1
G 0.800 CausalMutation CLINVAR