Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs139455627
rs139455627
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872
0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2016 2016