Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61730849
rs61730849
MMP20 ; LOC101928477
A 0.700 GeneticVariation CLINVAR Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. 28473773

2017
dbSNP: rs61730849
rs61730849
MMP20 ; LOC101928477
A 0.700 GeneticVariation CLINVAR Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta. 28659819

2017
dbSNP: rs61730849
rs61730849
MMP20 ; LOC101928477
A 0.700 GeneticVariation CLINVAR Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta. 23625376

2013
dbSNP: rs587777515
rs587777515
MMP20 ; LOC101928477
T 0.700 CausalMutation CLINVAR

dbSNP: rs587777516
rs587777516
MMP20 ; LOC101928477
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204826
rs786204826
MMP20 ; LOC101928477
C 0.700 CausalMutation CLINVAR