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: rs144411158
rs144411158
0.925 0.200 17 68555742 stop gained G/A;T snv 4.4E-05; 4.0E-06
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2012 2012