Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993993
rs113993993
SBDS
CUI: C0457756
Disease: Tooth absent
Tooth absent 		G 0.700 CausalMutation CLINVAR

dbSNP: rs120074160
rs120074160
SBDS
CUI: C0457756
Disease: Tooth absent
Tooth absent 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs139455627
rs139455627
TSPEAR
CUI: C0457756
Disease: Tooth absent
Tooth absent 		A 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs1557036768
rs1557036768
HUWE1
CUI: C0457756
Disease: Tooth absent
Tooth absent 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
CUI: C0457756
Disease: Tooth absent
Tooth absent 		AA 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs267606670
rs267606670
ATP1A3
CUI: C0457756
Disease: Tooth absent
Tooth absent 		T 0.700 CausalMutation CLINVAR