Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853035
rs137853035
DYNC2H1
0.800 GeneticVariation UNIPROT Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 23456818

2013
dbSNP: rs137853035
rs137853035
DYNC2H1
0.800 GeneticVariation UNIPROT NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 22499340

2012
dbSNP: rs137853035
rs137853035
DYNC2H1
0.800 GeneticVariation UNIPROT Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 19361615

2009
dbSNP: rs137853035
rs137853035
DYNC2H1
0.800 GeneticVariation UNIPROT DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 19442771

2009
dbSNP: rs137853035
rs137853035
DYNC2H1
G 0.800 CausalMutation CLINVAR