rs140981580, SSUH2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dentin dysplasia, type 1
CUI: C0399379
Disease: Dentin dysplasia, type 1
0.010 GeneticVariation BEFREE Using a large Chinese family with 14 DDI patients, we mapped the gene locus responsible for DDI to 3p26.1-3p24.3 and further identified a missense mutation, c.353C>A (p.P118Q) in the SSUH2 gene on 3p26.1, which co-segregated with DDI. 27680507 2017