Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139455627
rs139455627
TSPEAR
A 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
AA 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs1057518764
rs1057518764
DLX3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555617226
rs1555617226
DLX3
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606670
rs267606670
ATP1A3
T 0.700 CausalMutation CLINVAR

dbSNP: rs370270828
rs370270828
BRF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs373957300
rs373957300
BRF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs606231416
rs606231416
BRF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs606231450
rs606231450
BRF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs142343894
rs142343894
GREM2
0.010 GeneticVariation BEFREE The previously described, functional GREM2 mutation (c.226C > G, p.Gln76Glu) was identified in two patients with hypodontia and associated dental anomalies, including taurodontism and microdontia. 28992378

2018