rs1566843321, TRIP11

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
0.700 GeneticVariation CLINVAR Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 30728324 2019
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.700 CausalMutation CLINVAR